ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2770-13A>G (rs184123387)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150117 SCV000516672 benign not specified 2015-07-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000265136 SCV000377489 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322633 SCV000377490 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379750 SCV000377491 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150117 SCV000196945 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2770-13A>G vari ant in ABCC9 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (11/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1 84123387). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictiv e enough to rule out pathogenicity. While this frequency suggests that this vari ant is more likely benign, it is too low to confidently rule out a disease causi ng role. Additional information is needed to fully assess its clinical significa nce.

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