ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) (rs61745498)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039597 SCV000063286 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro194His in Exon 06 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.7% (175/3054) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61745498).
GeneDx RCV000039597 SCV000168737 benign not specified 2014-03-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710453 SCV000602444 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710453 SCV000840675 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039597 SCV000193274 likely benign not specified no assertion criteria provided clinical testing

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