Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866359 | SCV001007443 | likely benign | CHARGE association | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776068 | SCV002013325 | likely benign | not provided | 2020-11-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507490 | SCV002802914 | likely benign | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362991 | SCV004056275 | likely benign | Inborn genetic diseases | 2023-07-29 | 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. |