Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727329 | SCV000533750 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727329 | SCV000707595 | uncertain significance | not provided | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643900 | SCV000765587 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429441 | SCV002730573 | likely benign | Cardiovascular phenotype | 2018-09-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |