Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040072 | SCV000063763 | likely benign | not specified | 2012-01-13 | criteria provided, single submitter | clinical testing | 24154+10A>G in intron 93 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 241 54+10A>G in intron 93 of TTN (allele frequency = n/a) |
Invitae | RCV003764694 | SCV004577561 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-03-01 | criteria provided, single submitter | clinical testing |