Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155595 | SCV000205303 | likely benign | not specified | 2013-03-27 | criteria provided, single submitter | clinical testing | 31994-4A>G in intron 158 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/8188 of European American chromosomes from a broad popul ation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). 31994-4A>G in intron 158 of TTN (allele frequency = 1/8188) ** |
Invitae | RCV002056091 | SCV002480206 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-07-14 | criteria provided, single submitter | clinical testing |