Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222972 | SCV000271044 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | p.Ser16896Ser in exon 246 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 | RCV000872241 | SCV001014028 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2019-06-07 | criteria provided, single submitter | clinical testing |