Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214407 | SCV000270332 | likely benign | not specified | 2015-11-13 | criteria provided, single submitter | clinical testing | p.Lys1292Lys in exon 29 of LAMA4: 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. |