Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184096 | SCV000236637 | benign | not specified | 2014-07-30 | 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. |
Laboratory for Molecular Medicine, |
RCV000184096 | SCV000271016 | likely benign | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | p.Ala10796Ala in exon 163 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (13/5342) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs528832388). |
Prevention |
RCV000184096 | SCV000315480 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000475851 | SCV000555228 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000184096 | SCV000705890 | likely benign | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770052 | SCV000901478 | benign | Cardiomyopathy | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840255 | SCV002101222 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840256 | SCV002101223 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840257 | SCV002101224 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840254 | SCV002101226 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000184096 | SCV004038685 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000184096 | SCV001917243 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723757 | SCV001954615 | likely benign | not provided | no assertion criteria provided | clinical testing |