Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703479 | SCV000832382 | likely benign | Luscan-Lumish syndrome | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000703479 | SCV000895586 | uncertain significance | Luscan-Lumish syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362914 | SCV004064281 | likely benign | Inborn genetic diseases | 2023-08-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |