ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4573C>G (p.Leu1525Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764713 SCV005374342 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2024-09-22 criteria provided, single submitter clinical testing

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