Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184182 | SCV000236802 | likely benign | not provided | 2012-09-26 | criteria provided, single submitter | clinical testing | The variant is found in DCM panel(s). |
Labcorp Genetics |
RCV001081444 | SCV000286412 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000254386 | SCV000315659 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000252028 | SCV000318055 | likely benign | Cardiovascular phenotype | 2012-11-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Athena Diagnostics | RCV000254386 | SCV000844607 | benign | not specified | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000254386 | SCV001362592 | benign | not specified | 2019-08-26 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.98083_98084delinsTT (p.Ala32695Phe) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.011 in 280436 control chromosomes in the gnomAD database, including 25 homozygotes. The observed variant frequency is approximately 18 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.98083_98084delinsTT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798645 | SCV002042341 | likely benign | Cardiomyopathy | 2023-01-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840303 | SCV002100643 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840304 | SCV002100654 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840305 | SCV002100665 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840302 | SCV002100676 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000254386 | SCV001955053 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000254386 | SCV001969411 | benign | not specified | no assertion criteria provided | clinical testing |