ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) (rs200946170)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724340 SCV000231290 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179095 SCV000711051 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing p.Leu3521Leu in exon 51 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.2% (57/24008) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs200946170).
GeneDx RCV000724340 SCV000968688 likely benign not provided 2018-05-18 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 RCV000724340 SCV001032236 benign not provided 2020-10-02 criteria provided, single submitter clinical testing

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