Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176171 | SCV000227786 | benign | not specified | 2015-02-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176171 | SCV000569616 | benign | not specified | 2018-01-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000542519 | SCV000656757 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000176171 | SCV001476224 | benign | not specified | 2020-07-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002262772 | SCV002543882 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | CACNA1A: BS1 |
Ambry Genetics | RCV002453622 | SCV002615068 | benign | Inborn genetic diseases | 2018-04-20 | 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. |
Fulgent Genetics, |
RCV002500485 | SCV002813052 | likely benign | Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 | 2022-03-30 | criteria provided, single submitter | clinical testing |