ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1813A>G (p.Met605Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017852 SCV005646341 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6; Blood group, ER 2024-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112643 SCV005831652 likely benign not provided 2024-09-17 criteria provided, single submitter clinical testing

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