Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222606 | SCV000270981 | likely benign | not specified | 2015-08-13 | criteria provided, single submitter | clinical testing | p.Ala4943Ala in Exon 60 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/ 66688 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; rs377556808). |
Eurofins Ntd Llc |
RCV000726151 | SCV000342465 | uncertain significance | not provided | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085746 | SCV000555002 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-04-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769069 | SCV000900442 | likely benign | Cardiomyopathy | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726151 | SCV003916205 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003967586 | SCV004792334 | likely benign | TTN-related condition | 2019-07-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV000726151 | SCV001741396 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000726151 | SCV001798163 | likely benign | not provided | no assertion criteria provided | clinical testing |