Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039938 | SCV000063629 | likely benign | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | Ala5502Thr in exon 66 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (12/3120) of African American ch romosomes by the NHLBI Exome Sequencing Project in a broad population (http://ev s.gs.washington.edu/EVS). Ala5502Thr in exon 66 of TTN (allele frequency = 0.4% , 12/3120) ** |
Eurofins Ntd Llc |
RCV000039938 | SCV000114340 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000472656 | SCV000555465 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039938 | SCV000616016 | benign | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703896 | SCV000719941 | likely benign | not provided | 2021-02-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839532 | SCV002099917 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839533 | SCV002099918 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839534 | SCV002099919 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839531 | SCV002099920 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000039938 | SCV001979145 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001703896 | SCV001979782 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004534863 | SCV004729418 | likely benign | TTN-related disorder | 2021-01-27 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |