Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854656 | SCV002224208 | likely benign | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515884 | SCV003740618 | likely benign | Inborn genetic diseases | 2022-03-14 | 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. |
ITMI | RCV000121516 | SCV000085710 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |