Submissions for variant NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)

gnomAD frequency: 0.00218  dbSNP: rs140493567

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973296	SCV001121046	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099896	SCV001256388	likely benign	Age related macular degeneration 1	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics	RCV001099896	SCV002799330	likely benign	Age related macular degeneration 1	2022-03-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000973296	SCV004123990	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	HMCN1: BP4
Genome-Nilou Lab	RCV001099896	SCV004179871	likely benign	Age related macular degeneration 1	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003906058	SCV004722876	benign	HMCN1-related disorder	2019-06-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).