Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594387 | SCV000707477 | uncertain significance | not provided | 2017-04-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084814 | SCV001005266 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341531 | SCV002638241 | likely benign | Cardiovascular phenotype | 2020-07-20 | 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. |
Ce |
RCV000594387 | SCV004011258 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |