ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=)

gnomAD frequency: 0.63926  dbSNP: rs8096037
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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 RCV000246532 SCV000313907 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001534408 SCV001751336 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788153 SCV002029792 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788152 SCV002029793 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788151 SCV002029794 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788154 SCV002029795 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001534408 SCV002402608 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534408 SCV005250619 benign not provided criteria provided, single submitter not provided

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