Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218312 | SCV000271057 | likely benign | not specified | 2015-03-30 | criteria provided, single submitter | clinical testing | p.Ala19098Ala in exon 260 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |
Invitae | RCV002517518 | SCV003455934 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-08-20 | criteria provided, single submitter | clinical testing |