Submissions for variant NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) (rs56329646)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000039658	SCV000063347	benign	not specified	2012-03-20	criteria provided, single submitter	clinical testing	Asp3071Asp in exon 43 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.4% (26/6554) of Europe an American chromosomes and 0.01% (3/2960) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington .edu/EVS/; dbSNP rs56329646).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000725015	SCV000333220	uncertain significance	not provided	2015-08-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000039658	SCV000728528	likely benign	not specified	2017-12-01	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	RCV000725015	SCV001105394	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725015	SCV001142944	likely benign	not provided	2019-03-27	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001157216	SCV001318767	uncertain significance	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, 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000725015	SCV001335129	likely benign	not provided	2020-03-01	criteria provided, single submitter	clinical testing