ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2170-18del

dbSNP: rs11468237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657011 SCV001867065 benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001657011 SCV002371144 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501992 SCV002806020 likely benign Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 2021-09-27 criteria provided, single submitter clinical testing

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