Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193420 | SCV000246411 | benign | not specified | 2016-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872096 | SCV001013861 | benign | KBG syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682905 | SCV001904905 | benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000872096 | SCV002525190 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001682905 | SCV002563363 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BP7, BS1, BS2 |
Ambry Genetics | RCV002345686 | SCV002653803 | likely benign | Inborn genetic diseases | 2017-09-21 | 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. |