Submissions for variant NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)

gnomAD frequency: 0.02332  dbSNP: rs41311343

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039505	SCV000063194	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000039505	SCV000168719	benign	not specified	2013-05-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000039505	SCV000231291	benign	not specified	2014-11-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000086991	SCV000612274	benign	not provided	2018-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155647	SCV001317087	likely benign	Usher syndrome type 2C	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000086991	SCV001721392	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086991	SCV002049851	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086991	SCV000119244	not provided	not provided		no assertion provided	not provided
Genetic Services Laboratory, University of Chicago	RCV000039505	SCV000193222	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039505	SCV001744570	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039505	SCV001927779	benign	not specified		no assertion criteria provided	clinical testing