ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1337G>T (p.Arg446Leu) (rs143502097)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517129 SCV000615849 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001696825 SCV000723655 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Invitae RCV000861110 SCV001001333 likely benign Charcot-Marie-Tooth disease axonal type 2C 2020-06-28 criteria provided, single submitter clinical testing

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