Submissions for variant NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)

gnomAD frequency: 0.14695  dbSNP: rs16869032

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039663	SCV000063352	benign	not specified	2011-02-01	criteria provided, single submitter	clinical testing	Gly3248Asp in exon 45 of GPR98: This variant is not expected to have clinical si gnificance because it is listed in dbSNP with a heterozygous frequency of 16-56% (rs16869032)
GeneDx	RCV000039663	SCV000168717	benign	not specified	2013-01-08	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.
PreventionGenetics, part of Exact Sciences	RCV000039663	SCV000314880	benign	not specified		criteria provided, single submitter	clinical testing
Mendelics	RCV000987539	SCV001136855	benign	Usher syndrome type 2C	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987539	SCV001312922	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001516998	SCV001725382	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987539	SCV001933923	benign	Usher syndrome type 2C	2021-08-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039663	SCV000193299	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039663	SCV001742963	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039663	SCV001959585	benign	not specified		no assertion criteria provided	clinical testing