ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1012-7G>A (rs727502874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150121 SCV000196964 uncertain significance not specified 2013-08-11 criteria provided, single submitter clinical testing The 1012-7G>A variant in ABCC9 has not been reported in individuals with cardiom yopathy or in large population studies. This variant is located in the 3' splice region. Computational tools suggest a possible impact to splicing, though this information is not predictive enough to determine pathogenicity. Additional stud ies are needed to fully assess the clinical significance of this variant.
Fulgent Genetics,Fulgent Genetics RCV000765080 SCV000896285 uncertain significance Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 2018-10-31 criteria provided, single submitter clinical testing

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