ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) (rs35078611)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253692 SCV000313771 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253692 SCV000531249 likely benign not specified 2017-06-16 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 RCV000756821 SCV000646244 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756821 SCV000884742 benign not provided 2017-10-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756821 SCV001146247 benign not provided 2019-07-10 criteria provided, single submitter clinical testing

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