Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152415 | SCV000201445 | likely benign | not specified | 2014-06-19 | criteria provided, single submitter | clinical testing | Glu4190Lys in exon 45B of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >40 mammals including several primates (orangutan, gibbon, marmoset, squirre l monkey, and bushbaby) have a lysine (Lys) at this position despite high nearby amino acid conservation. |
Invitae | RCV000465956 | SCV000542555 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770107 | SCV000901533 | likely benign | Cardiomyopathy | 2022-06-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538746 | SCV001756437 | likely benign | not provided | 2019-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362801 | SCV002658501 | likely benign | Cardiovascular phenotype | 2020-01-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |