ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4708+18C>T

gnomAD frequency: 0.83716  dbSNP: rs5024299
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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 RCV000251688 SCV000313908 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636815 SCV001850574 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788157 SCV002029783 benign Marden-Walker syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788156 SCV002029784 benign Gordon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788155 SCV002029785 benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788158 SCV002029786 benign Arthrogryposis, distal, with impaired proprioception and touch 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001636815 SCV002405340 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636815 SCV005250615 benign not provided criteria provided, single submitter not provided

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