ClinVar Miner

Submissions for variant NM_032119.3(ADGRV1):c.9607T>A (p.Ser3203Thr) (rs116480183)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000515025 SCV000840697 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515025 SCV000610805 likely benign not provided 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000150768 SCV000718746 likely benign not specified 2017-12-26 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150768 SCV000198255 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser3203Thr in Exon 44 of GPR98: This variant is not expected to have clinical significance because it has been identified in 1.5% (42/2890) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs116480183).

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