ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) (rs41302834)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039598 SCV000063287 benign not specified 2012-04-10 criteria provided, single submitter clinical testing Asp1944Asn in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (50/6688) of European American chromosomes in a broad population by the NHLBI Exome sequencing project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs41302834).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039598 SCV000228650 benign not specified 2014-06-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436446 SCV000511733 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000039598 SCV000728524 likely benign not specified 2017-11-01 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 RCV000436446 SCV001023082 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987535 SCV001136850 benign Usher syndrome, type 2C 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000436446 SCV001142936 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000436446 SCV001154438 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987535 SCV001312587 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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