ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=)

gnomAD frequency: 0.78175  dbSNP: rs7241380
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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 RCV000242841 SCV000313903 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001594917 SCV001829193 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788141 SCV002029809 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788140 SCV002029810 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788139 SCV002029813 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788142 SCV002029814 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001594917 SCV002440149 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594917 SCV005248898 benign not provided criteria provided, single submitter not provided

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