ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1476A>T (p.Arg492=) (rs397516569)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036879 SCV000060534 likely benign not specified 2012-04-19 criteria provided, single submitter clinical testing Arg492Arg in Exon 13 of ACTN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (;). Arg492Arg in Exon 13 of ACTN2 (allele freq uency= 1/7020) **
Invitae RCV000475345 SCV000563586 likely benign not provided 2016-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000036879 SCV000732354 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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