Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150110 | SCV000196934 | likely benign | not specified | 2014-11-12 | criteria provided, single submitter | clinical testing | p.Thr1556Thr in exon 30 of ABCA3: 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 | RCV003727621 | SCV004535538 | likely benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing |