ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4775+31G>T

gnomAD frequency: 0.22643  dbSNP: rs3816618
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652047 SCV001866663 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788682 SCV002029685 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788683 SCV002029686 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001652047 SCV005250212 benign not provided criteria provided, single submitter not provided

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