Submissions for variant NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)

gnomAD frequency: 0.00121  dbSNP: rs144269892

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595742	SCV000701643	likely benign	not specified	2018-05-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710424	SCV000840637	likely benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV000710424	SCV001036530	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153106	SCV001314361	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000595742	SCV001365485	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Asn3935Asn in Exon 57 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (11/3010) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144269892).
GeneDx	RCV000710424	SCV001777888	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710424	SCV004159128	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BP7