ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.2644-11G>C

dbSNP: rs61926078
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Total submissions: 3
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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 RCV000150118 SCV000196946 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing The c.2644-11G>C variant in ABCC9 has not been reported in any other families wi th DCM, but has been identified in 2/10322 African chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org). This variant is locat ed in the 3' splice region. Although computational tools do not suggest an impac t to splicing, this information is not predictive enough to rule out pathogenici ty. In summary, the clinical significance of the c.2644-11G>C variant is uncerta in.
GeneDx RCV001704077 SCV000515613 likely benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055950 SCV002368703 likely benign Dilated cardiomyopathy 1O 2024-12-24 criteria provided, single submitter clinical testing

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