ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) (rs387906902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023426 SCV000044717 pathogenic Charcot-Marie-Tooth disease axonal type 2C 2010-11-30 no assertion criteria provided literature only
GeneReviews RCV000202508 SCV000148021 pathogenic Skeletal dysplasia; Neuromuscular disease 2014-04-02 no assertion criteria provided literature only

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