ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3030T>C (p.Ala1010=) (rs76102634)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213474 SCV000269965 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala1010Ala in exon 24 of ABCC9: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (17/10396) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs76102634).
Ambry Genetics RCV000247975 SCV000320510 likely benign Cardiovascular phenotype 2015-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000213474 SCV000522495 likely benign not specified 2017-09-12 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.
Invitae RCV000458152 SCV000561912 benign not provided 2018-12-13 criteria provided, single submitter clinical testing

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