Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156252 | SCV000205968 | likely benign | not specified | 2013-12-26 | criteria provided, single submitter | clinical testing | Val30702Val in exon 304 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Val30702Val in exon 304 of TTN (allele freq uency = n/a) |
Gene |
RCV001704134 | SCV000517019 | likely benign | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000472013 | SCV000555167 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840180 | SCV002101699 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840181 | SCV002101700 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840182 | SCV002101701 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840179 | SCV002101702 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381499 | SCV002672000 | likely benign | Cardiovascular phenotype | 2022-09-02 | 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. |