ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.2339+13A>G

gnomAD frequency: 0.00012  dbSNP: rs189255166
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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 RCV000038602 SCV000062280 likely benign not specified 2013-01-13 criteria provided, single submitter clinical testing 2339+13A>G in intron 18 of ABCC9: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.1% (3/4404) of African American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS). 2339+13A>G in intron 18 of ABCC9 (allele frequency = 0.1%, 3/4404) **
Invitae RCV002054709 SCV002449153 likely benign Dilated cardiomyopathy 1O 2023-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477104 SCV002795953 likely benign Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 2021-07-23 criteria provided, single submitter clinical testing

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