ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.161-32G>A

gnomAD frequency: 0.85011  dbSNP: rs7201439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637276 SCV001849203 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788652 SCV002029735 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788653 SCV002029736 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637276 SCV005252508 benign not provided criteria provided, single submitter not provided

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