Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727523 | SCV000709448 | uncertain significance | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727523 | SCV000728238 | likely benign | not provided | 2019-07-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31719132) |
Ambry Genetics | RCV002311954 | SCV000847142 | likely benign | Inborn genetic diseases | 2016-07-26 | 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 | RCV001082686 | SCV001046027 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-18 | criteria provided, single submitter | clinical testing |