Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000981734 | SCV001155412 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504884 | SCV001709770 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2020-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549574 | SCV003553954 | likely benign | Inborn genetic diseases | 2022-01-18 | 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. |