ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989006 SCV004805474 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2024-03-25 criteria provided, single submitter research

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