ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.658T>C (p.Tyr220His)

dbSNP: rs1595760821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788760 SCV000927993 uncertain significance not provided 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000788760 SCV002588257 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30384889)

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