ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.528C>T (p.His176=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120339 SCV003799347 likely benign not provided 2022-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005060939 SCV005722644 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-06-24 criteria provided, single submitter clinical testing

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