Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000874299 | SCV001016455 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501329 | SCV002808409 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539979 | SCV003562204 | likely benign | Inborn genetic diseases | 2021-06-14 | 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. |