ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=)

gnomAD frequency: 0.81713  dbSNP: rs7407105
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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 RCV000252780 SCV000313905 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689912 SCV001910877 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788145 SCV002029801 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788144 SCV002029802 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788143 SCV002029803 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788146 SCV002029804 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689912 SCV002460598 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689912 SCV005250623 benign not provided criteria provided, single submitter not provided

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