Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725466 | SCV000700983 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725466 | SCV000730323 | likely benign | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27066551, 28771489) |
Invitae | RCV001086587 | SCV001001342 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350421 | SCV002648884 | likely benign | Cardiovascular phenotype | 2019-03-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |