ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) (rs114137750)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000433341 SCV000840698 likely benign not provided 2017-10-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433341 SCV000510622 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000146084 SCV000728529 likely benign not specified 2017-11-15 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.
Genetic Services Laboratory, University of Chicago RCV000146084 SCV000193298 likely benign not specified no assertion criteria provided clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714565 SCV000845267 uncertain significance Usher syndrome, type 2C 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714566 SCV000845268 uncertain significance Febrile seizures, familial, 1 2018-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000146084 SCV000198257 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala3217Val in Exon 45 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (71/6670) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs114137750).

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