ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)

gnomAD frequency: 0.00029  dbSNP: rs377096949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596399 SCV000706178 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000596399 SCV001794304 uncertain significance not provided 2020-02-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000596399 SCV003780081 likely benign not provided 2023-06-10 criteria provided, single submitter clinical testing

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