Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710545 | SCV000840786 | likely benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317929 | SCV000850319 | likely benign | Inborn genetic diseases | 2018-05-03 | 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. |
Invitae | RCV001078902 | SCV001097553 | likely benign | KBG syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989663 | SCV001140195 | likely benign | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710545 | SCV001911305 | benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001078902 | SCV002524221 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710545 | SCV004143541 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | ANKRD11: BS1, BS2 |