ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)

gnomAD frequency: 0.00005  dbSNP: rs906425217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001269332 SCV001448277 uncertain significance Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 2020-10-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812270 SCV001474401 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing

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