ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)

dbSNP: rs587776990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049234 SCV000077487 pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2013-01-01 no assertion criteria provided literature only

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