ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1155C>T (p.Tyr385=) (rs532155333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197727 SCV000253336 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2015-05-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214809 SCV000269980 likely benign not specified 2015-05-20 criteria provided, single submitter clinical testing p.Tyr385Tyr in exon 11 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 9/16512 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs532155333).

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