Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040178 | SCV000063869 | likely benign | not specified | 2012-05-01 | criteria provided, single submitter | clinical testing | 30952+7C>T in Intron 148 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. 30952+7C>T in Intron 148 of TTN (allele f requency = n/a) |
Invitae | RCV000937835 | SCV001083628 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-11-01 | criteria provided, single submitter | clinical testing |