ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7316+21del

dbSNP: rs3214887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636356 SCV001852301 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788659 SCV002029663 benign Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788660 SCV002029664 benign Lymphatic malformation 6 2021-09-05 criteria provided, single submitter clinical testing

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