ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)

gnomAD frequency: 0.29299  dbSNP: rs2277860
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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 RCV000241549 SCV000313923 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636816 SCV001851905 benign not provided 2019-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788169 SCV002029765 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788168 SCV002029766 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788167 SCV002029768 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788170 SCV002029769 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001636816 SCV002434787 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636816 SCV005248399 benign not provided criteria provided, single submitter not provided

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