ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.798T>C (p.Asp266=)

gnomAD frequency: 0.00113  dbSNP: rs138356189
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038624 SCV000062302 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asp266Asp in Exon 05 of ABCC9: 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 and has been identified in 0.6% (22/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs138356189).
Invitae RCV000229371 SCV000288992 benign Dilated cardiomyopathy 1O 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001697101 SCV000525276 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769383 SCV000900775 likely benign Cardiomyopathy 2016-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415477 SCV002678578 likely benign Cardiovascular phenotype 2020-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001697101 SCV002035064 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001697101 SCV002035839 likely benign not provided no assertion criteria provided clinical testing

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