Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215814 | SCV000271008 | likely benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | p.Leu9430Val in exon 122 of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, >10 mammals (including 1 primate) have a valine (Val) at this position des pite high nearby amino acid conservation. It has been identified in 0.1% (11/862 0) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org). |
Invitae | RCV000463757 | SCV000542506 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137806 | SCV003824145 | likely benign | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing |