ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3194G>A (p.Arg1065His)

gnomAD frequency: 0.00001  dbSNP: rs769362736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758427 SCV001995345 uncertain significance not provided 2019-09-10 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
CeGaT Center for Human Genetics Tuebingen RCV001758427 SCV004140518 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MYH14: BP4

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