ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1557+16C>G

dbSNP: rs734918
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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 RCV001530900 SCV001473474 benign not provided 2024-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001530900 SCV001745807 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788451 SCV002029710 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788452 SCV002029711 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001530900 SCV002367788 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530900 SCV005250290 benign not provided criteria provided, single submitter not provided

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