ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) (rs757493897)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865254 SCV001006190 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174129 SCV001337250 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284985 SCV001471087 likely benign none provided 2020-01-16 criteria provided, single submitter clinical testing

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