Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040189 | SCV000063880 | likely benign | not specified | 2015-08-27 | criteria provided, single submitter | clinical testing | c.31825+10A>C in intron 156 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. It has been identified in 0.7% (89/11510) of Latino chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs397517554). |
Eurofins Ntd Llc |
RCV000040189 | SCV000337898 | benign | not specified | 2015-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000040189 | SCV000515123 | benign | not specified | 2015-03-27 | 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 | RCV000467017 | SCV000555201 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000040189 | SCV000597656 | likely benign | not specified | 2017-05-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171022 | SCV001333691 | benign | Cardiomyopathy | 2017-11-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811294 | SCV002050098 | likely benign | not provided | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839601 | SCV002101240 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839602 | SCV002101241 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839603 | SCV002101242 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839600 | SCV002101243 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040189 | SCV002572380 | benign | not specified | 2022-08-27 | criteria provided, single submitter | clinical testing |