ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6653C>G (p.Pro2218Arg)

dbSNP: rs1567961103
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV000678483 SCV000804546 uncertain significance Congenital contracture no assertion criteria provided clinical testing

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