Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041370 | SCV000065063 | likely benign | not specified | 2012-04-05 | criteria provided, single submitter | clinical testing | 810+13G>A in intron 4 of LMNA: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 810+ 13G>A in intron 4 of LMNA (allele frequency = n/a) |
Invitae | RCV002054811 | SCV002338024 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-19 | criteria provided, single submitter | clinical testing |