ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2235A>G (p.Arg745=) (rs141884271)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150151 SCV000197033 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Arg745Arg in exon 18 of ACTN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 3/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs141884271). Arg745Arg in exon 18 of ACT N2 (rs141884271; allele frequency = 0.04%, 3/7020)

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