Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000040432 | SCV000054970 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040432 | SCV000064123 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Val17596Leu in Exon 253 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.3% (40/3138) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs72646843). |
Gene |
RCV000040432 | SCV000236665 | benign | not specified | 2014-07-25 | 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. |
Invitae | RCV001080001 | SCV000286759 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000249640 | SCV000320227 | benign | Cardiovascular phenotype | 2017-07-17 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000714062 | SCV000844728 | benign | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768971 | SCV000900344 | likely benign | Cardiomyopathy | 2016-04-07 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852830 | SCV000995560 | benign | Primary dilated cardiomyopathy | 2018-02-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040432 | SCV001431905 | likely benign | not specified | 2020-08-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839653 | SCV002101098 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839654 | SCV002101099 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839655 | SCV002101100 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839652 | SCV002101101 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496647 | SCV002804969 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000714062 | SCV004152353 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS1, BS2 |
ARUP Laboratories, |
RCV000714062 | SCV004563818 | likely benign | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000040432 | SCV001926191 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000040432 | SCV001975897 | benign | not specified | no assertion criteria provided | clinical testing |