ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.719C>T (p.Ser240Phe)

dbSNP: rs1208056389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329883 SCV001521434 uncertain significance Arthrogryposis, distal, with impaired proprioception and touch 2020-06-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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