Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734899 | SCV000863079 | uncertain significance | not provided | 2018-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001404534 | SCV001606436 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000734899 | SCV002049855 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002370000 | SCV002688184 | likely benign | Cardiovascular phenotype | 2019-12-02 | 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. |