Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215422 | SCV000270624 | likely benign | not specified | 2016-01-15 | criteria provided, single submitter | clinical testing | p.Ala1743Ala in exon 37 of NF1: 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. |
Ambry Genetics | RCV000222838 | SCV000273752 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000459577 | SCV000554872 | likely benign | Neurofibromatosis, type 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567364 | SCV001791029 | likely benign | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000459577 | SCV002560809 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |