Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040895 | SCV000064586 | benign | not specified | 2015-01-26 | criteria provided, single submitter | clinical testing | 92468-10_92468-9insT in intron 305 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.2% (104/8792) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs397517782). |
Gene |
RCV000040895 | SCV000236698 | benign | not specified | 2014-06-16 | criteria provided, single submitter | clinical testing | The variant is found in CARDIOMYOPATHY,DCM-CRDM panel(s). |
Invitae | RCV001079618 | SCV000286380 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000309583 | SCV000420313 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000366459 | SCV000420314 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000264912 | SCV000420315 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000322481 | SCV000420316 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000379379 | SCV000420317 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000268603 | SCV000420318 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000040895 | SCV000597633 | benign | not specified | 2017-11-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768838 | SCV000900211 | benign | Cardiomyopathy | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000233669 | SCV001146294 | benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040895 | SCV001360460 | benign | not specified | 2019-08-13 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.92468-10dupT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0055 in 178860 control chromosomes, predominantly at a frequency of 0.011 within the South Asian subpopulation in the gnomAD database, including 1 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 18-folds over the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. Five ClinVar submissions (evaluation after 2014) cite the variant three times as benign, once as likely benign and once as uncertain significance. Based on the evidence outlined above, the variant was classified as benign. |
Ce |
RCV000233669 | SCV002822723 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000233669 | SCV001800641 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000040895 | SCV001917628 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000233669 | SCV001927221 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000040895 | SCV001954609 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000233669 | SCV001969634 | likely benign | not provided | no assertion criteria provided | clinical testing |