Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501692 | SCV000596712 | benign | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712902 | SCV000724789 | benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712902 | SCV000843453 | benign | not provided | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314878 | SCV000848427 | likely benign | Inborn genetic diseases | 2018-02-28 | 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 | RCV000712902 | SCV002370287 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712902 | SCV004142363 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | RAI1: BP4, BS1 |