ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=)

gnomAD frequency: 0.30977  dbSNP: rs2911442
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001683544 SCV000604640 benign not provided 2024-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001683544 SCV001900747 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788260 SCV002029737 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788261 SCV002029738 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683544 SCV002375188 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683544 SCV005252513 benign not provided criteria provided, single submitter not provided

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