Submissions for variant NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)

gnomAD frequency: 0.31179  dbSNP: rs2366926

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039616	SCV000063305	benign	not specified	2007-03-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039616	SCV000314873	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151574	SCV001312708	benign	Usher syndrome type 2C	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001509775	SCV001716646	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001509775	SCV001860430	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496634	SCV002805484	benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2021-08-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039616	SCV000193283	likely benign	not specified		no assertion criteria provided	clinical testing