ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.57C>T (p.Pro19=) (rs112408790)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506931 SCV000605448 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000506931 SCV000723330 likely benign not specified 2017-09-28 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 RCV000645567 SCV000767317 benign Charcot-Marie-Tooth disease type 2C 2017-08-16 criteria provided, single submitter clinical testing

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