Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156093 | SCV000205806 | likely benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | p.Ala5479Ala in exon 66 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/66616 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). |
Gene |
RCV000156093 | SCV000532409 | likely benign | not specified | 2016-10-07 | 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 | RCV001498761 | SCV001703514 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137675 | SCV003825916 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing |