ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) (rs191631773)

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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 RCV000223447 SCV000269982 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Thr716Thr in exon 17 of ACTN2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/8622 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs191631773).
Invitae RCV000528049 SCV000636951 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769769 SCV000901192 likely benign Cardiomyopathy 2016-09-26 criteria provided, single submitter clinical testing

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