Submissions for variant NM_032119.4(ADGRV1):c.7945+6C>T

gnomAD frequency: 0.01100  dbSNP: rs139278305

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039638	SCV000063327	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	7945+6C>T in Intron 33 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 3.4% (106/3074) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs139278305).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514764	SCV000610034	likely benign	not provided	2017-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000039638	SCV000728527	benign	not specified	2018-01-22	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.
Invitae	RCV000514764	SCV001096712	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151655	SCV001312820	benign	Usher syndrome type 2C	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc	RCV000039638	SCV001476091	benign	not specified	2019-11-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039638	SCV000193292	likely benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514764	SCV001931779	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039638	SCV001969687	benign	not specified		no assertion criteria provided	clinical testing