Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040171 | SCV000063862 | likely benign | not specified | 2014-09-24 | criteria provided, single submitter | clinical testing | p.Glu10172del in exon 143 of TTN: This variant is a deletion of 1 amino acid at position 10172 in a string of glutamic acid residues and is not predicted to alt er the protein reading-frame. This deletion is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, 3 mammals (gorilla, alpaca, and camel) have a deletion at this position desp ite high nearby amino acid conservation. |
Illumina Laboratory Services, |
RCV000358341 | SCV000423577 | uncertain significance | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000265995 | SCV000423578 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000304720 | SCV000423579 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000361578 | SCV000423580 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000269293 | SCV000423581 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000326725 | SCV000423582 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000461729 | SCV000555246 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2025-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000040171 | SCV000566077 | benign | not specified | 2016-03-31 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170392 | SCV001332969 | benign | Cardiomyopathy | 2018-07-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811293 | SCV002049504 | benign | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040171 | SCV003934170 | likely benign | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811293 | SCV004152476 | benign | not provided | 2024-12-01 | criteria provided, single submitter | clinical testing | TTN: PM4:Supporting, BS1, BS2 |
Blueprint Genetics | RCV000157573 | SCV000207319 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-02-11 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004534894 | SCV004725430 | benign | TTN-related disorder | 2019-03-27 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |