Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155967 | SCV000205679 | likely benign | not specified | 2013-08-23 | criteria provided, single submitter | clinical testing | Glu638Glu in exon 12 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Glu638Glu in exon 12 of TTN (allele frequency = n/a) |
Gene |
RCV000841260 | SCV000983218 | likely benign | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000841260 | SCV001153200 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001503627 | SCV001708483 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399554 | SCV002714831 | likely benign | Cardiovascular phenotype | 2022-05-20 | 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. |