Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155667 | SCV000205376 | uncertain significance | not specified | 2013-04-12 | criteria provided, single submitter | clinical testing | The Gln20131His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, PolyPhen2, and SIFT) are uninformative. Additio nal information is needed to fully assess the clinical significance of this vari ant. |
Invitae | RCV000643666 | SCV000765353 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714077 | SCV000844744 | uncertain significance | not provided | 2018-03-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000714077 | SCV001764511 | likely benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221, 26573135) |
Revvity Omics, |
RCV000714077 | SCV003824222 | uncertain significance | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing |