Submissions for variant NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)

gnomAD frequency: 0.00166  dbSNP: rs149011081

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886163	SCV001029653	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149171	SCV001310109	uncertain significance	Epidermolysis bullosa dystrophica	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000886163	SCV001824171	likely benign	not provided	2022-09-29	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	RCV003153879	SCV003842271	uncertain significance	Amelogenesis imperfecta type 1	2023-03-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272618	SCV001454728	likely benign	Generalized dominant dystrophic epidermolysis bullosa	2020-06-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751784	SCV005351982	likely benign	COL7A1-related disorder	2024-09-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).