ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) (rs74632023)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039521 SCV000063210 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro4346Leu in Exon 64 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 2.5% (76/3026) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs74632023).
GeneDx RCV000039521 SCV000522887 likely benign not specified 2016-02-08 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.
Invitae RCV000968058 SCV001115488 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039521 SCV000193234 likely benign not specified no assertion criteria provided clinical testing

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