Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041165 | SCV000064856 | likely benign | not specified | 2012-04-18 | criteria provided, single submitter | clinical testing | Gly568Gly in exon 13 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence. Gly568Gly in exon 13 of NEXN (allele frequ ency = n/a) |
Invitae | RCV000969907 | SCV001117453 | likely benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-07-24 | criteria provided, single submitter | clinical testing |