Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704230 | SCV000512556 | benign | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22867051) |
Invitae | RCV000468230 | SCV000558802 | benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990487 | SCV001141489 | likely benign | Developmental and epileptic encephalopathy, 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453571 | SCV002738417 | likely benign | Inborn genetic diseases | 2017-12-05 | 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. |
Rett |
RCV000169960 | SCV000222260 | benign | not specified | 2014-05-15 | no assertion criteria provided | curation | Found in unaffected male and normal population, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly damaging, AlignGVGD = benign (C0) |