Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
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 |