Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000262677 | SCV000335925 | likely benign | not specified | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000476068 | SCV000555331 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001537806 | SCV000714740 | likely benign | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619573 | SCV000736958 | likely benign | Cardiovascular phenotype | 2017-12-04 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000262677 | SCV002041798 | likely benign | not specified | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840461 | SCV002100500 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840462 | SCV002100501 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840463 | SCV002100502 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840460 | SCV002100503 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |