ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3923+1G>T

dbSNP: rs2510637127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003756642 SCV004543817 likely pathogenic Arthrogryposis, distal, with impaired proprioception and touch 2023-08-07 criteria provided, single submitter clinical testing

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