Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040491 | SCV000064182 | likely benign | not specified | 2016-05-27 | criteria provided, single submitter | clinical testing | c.57572-8T>C in intron 260 of TTN: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 0.21% (10/4750) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377484398). |
Gene |
RCV000040491 | SCV000236673 | benign | not specified | 2014-10-02 | 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 | RCV001084825 | SCV000643526 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727837 | SCV000855276 | uncertain significance | not provided | 2017-09-13 | criteria provided, single submitter | clinical testing |