ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1153T>C (p.Tyr385His)

dbSNP: rs2059650911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334201 SCV001526985 uncertain significance Duchenne muscular dystrophy 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002305601 SCV002599910 uncertain significance not provided 2022-05-05 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; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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