ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile)

gnomAD frequency: 0.30463  dbSNP: rs7234309
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243372 SCV000313906 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636814 SCV001849192 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788149 SCV002029796 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788148 SCV002029797 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788147 SCV002029798 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788150 SCV002029799 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001636814 SCV002374046 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636814 SCV005250620 benign not provided criteria provided, single submitter not provided

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