Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040949 | SCV000064640 | likely benign | not specified | 2012-05-10 | criteria provided, single submitter | clinical testing | Gly32427Gly in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Gly32427Gly in exon 307 of TTN (allele f requency = n/a) |
Invitae | RCV002054799 | SCV002470875 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-09-03 | criteria provided, single submitter | clinical testing |