ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.704-1G>T

dbSNP: rs2144694416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001824498 SCV002074028 likely pathogenic not provided 2022-02-04 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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