Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000118747 | SCV000055042 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Genetic Services Laboratory, |
RCV000118747 | SCV000153227 | uncertain significance | not provided | 2013-12-23 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000154969 | SCV000188846 | likely benign | not specified | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000154969 | SCV000204651 | benign | not specified | 2015-03-12 | criteria provided, single submitter | clinical testing | p.Ile7711Val in exon 90 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (162/5240) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72648994). |
Eurofins Ntd Llc |
RCV000154969 | SCV000233213 | benign | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000154969 | SCV000238383 | benign | not specified | 2017-04-20 | 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 | RCV001082127 | SCV000555658 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170861 | SCV001333482 | benign | Cardiomyopathy | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154969 | SCV001372359 | likely benign | not specified | 2020-06-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000118747 | SCV003916200 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS2 |
Diagnostic Laboratory, |
RCV000154969 | SCV001742352 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154969 | SCV001923999 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000154969 | SCV001958648 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118747 | SCV001975462 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Practice for Gait Abnormalities, |
RCV002224961 | SCV002503604 | likely pathogenic | Tip-toe gait | no assertion criteria provided | clinical testing |