ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6834G>T (p.Trp2278Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017850 SCV005646338 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6; Blood group, ER 2024-02-12 criteria provided, single submitter clinical testing

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