ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2484C>T (p.Ala828=) (rs397516576)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036902 SCV000534182 likely benign not specified 2016-11-28 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036902 SCV000060557 likely benign not specified 2012-10-31 criteria provided, single submitter clinical testing Ala828Ala in exon 20 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. Ala828Ala in exon 20 of ACTN2 (allele freque ncy = n/a)

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