Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040359 | SCV000064050 | likely benign | not specified | 2012-04-05 | criteria provided, single submitter | clinical testing | Ser15540Ser in exon 230 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ser15540Ser in exon 230 of TTN (allele freq uency = n/a) |
Invitae | RCV001495784 | SCV001700473 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-11-16 | criteria provided, single submitter | clinical testing |