Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723901 | SCV000202357 | uncertain significance | not provided | 2014-04-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723901 | SCV000528888 | benign | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31139143) |
Invitae | RCV001086643 | SCV000647905 | benign | Intellectual disability, CASK-related, X-linked | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723901 | SCV001156004 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CASK: PP2, BS1, BS2 |
Ambry Genetics | RCV002408679 | SCV002720660 | benign | Inborn genetic diseases | 2018-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |