Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152363 | SCV000201285 | likely benign | not specified | 2014-12-03 | criteria provided, single submitter | clinical testing | p.Pro10585Pro in exon 156 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3/3614 African Ame rican chromosomes by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs371945519). |
Labcorp Genetics |
RCV000227381 | SCV000286630 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152363 | SCV000518231 | benign | not specified | 2015-10-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics | RCV000152363 | SCV001880253 | benign | not specified | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840092 | SCV002101253 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840093 | SCV002101254 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840094 | SCV002101255 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840091 | SCV002101256 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505156 | SCV002812023 | likely benign | 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 | 2021-09-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000152363 | SCV003928683 | likely benign | not specified | 2023-04-26 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004710555 | SCV005259535 | likely benign | not provided | criteria provided, single submitter | not provided |