ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2523C>T (p.Ala841=) (rs144537241)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243743 SCV000318998 benign Cardiovascular phenotype 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000038605 SCV000166796 benign not specified 2014-04-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000029275 SCV000051921 benign Primary dilated cardiomyopathy 2015-06-04 no assertion criteria provided clinical testing
Invitae RCV000465190 SCV000561916 benign Dilated cardiomyopathy 1O 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038605 SCV000062283 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Ala841Ala in Exon 21 of ABCC9: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.6% (43/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144537241).

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