Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176538 | SCV000228212 | uncertain significance | not provided | 2015-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000176538 | SCV001023376 | likely benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330442 | SCV001522122 | uncertain significance | Intellectual developmental disorder with autism and macrocephaly | 2019-09-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000176538 | SCV001832989 | benign | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345602 | SCV002646199 | likely benign | Inborn genetic diseases | 2022-06-13 | 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. |