ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.392T>C (p.Leu131Pro) (rs1572114611)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000855693 SCV001426212 uncertain significance Myopathy, distal, 6, adult-onset, autosomal dominant 2020-06-25 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Myopathy, distal, 6, adult onset, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).
OMIM RCV000855693 SCV000998842 pathogenic Myopathy, distal, 6, adult-onset, autosomal dominant 2019-11-08 no assertion criteria provided literature only

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