Submission Directions

The following document outlines how GenCC partners can share their submissions with the GenCC.

Submission Worksheet

Click here to download the current version of the GenCC Submission Worksheet - Version 1 Directions are provided in the Excel Worksheet and information will be provided at a later date to submitters on how to share the submission worksheet.

Submitter IDs

The following are the Submitter IDs the current GenCC member organizations. When sharing submissions, please ensure that the submitter_id column contains your identifier (GENCC:XXXXXX).

• GENCC:000101 – Ambry Genetics
• GENCC:000102 – ClinGen
• GENCC:000103 – DECIPHER
• GENCC:000104 – Genomics England PanelApp
• GENCC:000105 – Illumina
• GENCC:000106 – Invitae
• GENCC:000107 – Laboratory for Molecular Medicine
• GENCC:000108 – Myriad Women’s Health
• GENCC:000109 – Online Mendelian Inheritance in Man (OMIM)
• GENCC:000110 – Orphanet
• GENCC:000111 – PanelApp Australia

• GENCC:000112 – TGMI

  G2P

• GENCC:000113 – Franklin by Genoox
• GENCC:000114 – King Faisal Specialist Hospital and Research Center

Classification IDs

The following are the classification identifiers that the GenCC recognizes. When sharing submissions, please ensure that the classification_id column contains one of the following identifiers (GENCC:XXXXXX).

• GENCC:100001 – Definitive
• GENCC:100002 – Strong
• GENCC:100003 – Moderate
• GENCC:100004 – Limited
• GENCC:100005 – Disputed Evidence
• GENCC:100006 – Refuted Evidence
• GENCC:100007 – Animal Model Only
• GENCC:100008 – No Known Disease Relationship
• GENCC:100009 – Supportive

Mode of Inheritance IDs

The GenCC website required MOI to be provided as HPO terms. The following are suggested common MOI identifiers. When sharing submissions, please ensure that the classification_id column contains one of the following identifiers (HP:XXXXXX).

• HP:0000006 – Autosomal dominant inheritance
• HP:0000007 – Autosomal recessive inheritance
• HP:0001417 – X-linked inheritance
• HP:0001427 – Mitochondrial Inheritance
• HP:0032113 – Semi-dominant mode of inheritance
• HP:0000005 – (Literally mode of inheritance but we map to) Unknown inheritance
• HP:0001450 – Y-linked inheritance