ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4955+3G>A

gnomAD frequency: 0.00382  dbSNP: rs569520386
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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 RCV000901744 SCV001046131 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000901744 SCV002047927 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505306 SCV002811997 likely benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 2021-09-27 criteria provided, single submitter clinical testing

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