ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.354C>T (p.Gly118=) (rs539250948)

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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 RCV000156915 SCV000206636 likely benign not specified 2014-11-25 criteria provided, single submitter clinical testing p.Gly118Gly in exon 3 of ACTN2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV000226394 SCV000285874 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000156915 SCV000530793 likely benign not specified 2016-08-08 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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