Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000459308 | SCV000542417 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714639 | SCV000845353 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714640 | SCV000845354 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765573 | SCV000896888 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852527 | SCV000995225 | uncertain significance | Cardiomyopathy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402232 | SCV002709917 | likely benign | Cardiovascular phenotype | 2019-09-05 | 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. |
Revvity Omics, |
RCV003139609 | SCV003819800 | uncertain significance | not provided | 2022-11-24 | criteria provided, single submitter | clinical testing |