Submissions for variant NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)

gnomAD frequency: 0.00075  dbSNP: rs200111522

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155121	SCV000204807	benign	not specified	2015-11-25	criteria provided, single submitter	clinical testing	p.Asn6157Ser in Exon 88 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (62/10000) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200111522).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000966188	SCV001113480	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157761	SCV001319359	likely benign	Usher syndrome type 2C	2017-04-28	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.
GeneDx	RCV000966188	SCV001835147	benign	not provided	2018-07-10	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect
Breakthrough Genomics, Breakthrough Genomics	RCV000966188	SCV005221034	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004551346	SCV004748277	benign	ADGRV1-related disorder	2019-06-03	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).