Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727416 | SCV000708317 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727416 | SCV000723540 | likely benign | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27930701) |
Invitae | RCV001083942 | SCV001008750 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325134 | SCV002628186 | benign | Cardiovascular phenotype | 2020-03-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |