ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp)

gnomAD frequency: 0.11487  dbSNP: rs113682091
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250901 SCV000313919 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000990071 SCV001140851 benign Arthrogryposis, distal, with impaired proprioception and touch 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001711728 SCV001946440 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711728 SCV002401306 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711728 SCV005248411 benign not provided criteria provided, single submitter not provided

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