ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.263A>G (p.Asp88Gly)

gnomAD frequency: 0.01151  dbSNP: rs141202337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957491 SCV001104297 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000957491 SCV002049140 benign not provided 2024-10-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957491 SCV005219590 likely benign not provided criteria provided, single submitter not provided

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