ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) (rs397516575)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036901 SCV000060556 likely benign not specified 2012-11-28 criteria provided, single submitter clinical testing Ile815Ile 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. Ile815Ile in exon 20 of ACTN2 (allele freque ncy = n/a)
Invitae RCV000226004 SCV000285871 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000036901 SCV000721884 likely benign not specified 2017-08-14 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.
Ambry Genetics RCV000617407 SCV000740118 likely benign Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768747 SCV000900117 likely benign Cardiomyopathy 2017-08-17 criteria provided, single submitter clinical testing

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