ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5802-27G>A

dbSNP: rs4401037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668782 SCV001884962 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788721 SCV002029674 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788722 SCV002029675 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668782 SCV005250195 benign not provided criteria provided, single submitter not provided

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