Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040993 | SCV000064684 | likely benign | not specified | 2013-04-20 | criteria provided, single submitter | clinical testing | 10361-5delT in intron 45 of TTN: This variant is not expected to have clinical s ignificance because it is located outside the conserved +/- 1, 2 region of the s plicing consensus sequence and as part of a polyT stretch. This variant has bee n reported in dbSNP (rs66641728) without frequency information. 10361-5delT in intron 45 of TTN (rs66641728; allele frequency = n/a) |
Gene |
RCV001573523 | SCV001841378 | benign | not provided | 2019-08-10 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000415691 | SCV000493819 | uncertain significance | Dilated cardiomyopathy 1G | 2015-09-26 | no assertion criteria provided | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000415616 | SCV000493820 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2015-09-26 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000040993 | SCV001742762 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001573523 | SCV001799519 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000040993 | SCV001957317 | benign | not specified | no assertion criteria provided | clinical testing |