Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535864 | SCV000642652 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000597604 | SCV000702067 | likely benign | not specified | 2016-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722487 | SCV000730334 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840640 | SCV002100858 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840641 | SCV002100859 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840642 | SCV002100860 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840639 | SCV002100861 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448710 | SCV002732605 | likely benign | Cardiovascular phenotype | 2019-06-24 | 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. |