ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) (rs149554430)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251399 SCV000318825 likely benign Cardiovascular phenotype 2016-06-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768749 SCV000900119 uncertain significance Cardiomyopathy 2016-01-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607381 SCV000734011 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323292 SCV000355947 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377981 SCV000355948 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036903 SCV000060558 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro856Pro in Exon 21 of ACTN2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs149554430).

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