Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152896 | SCV000202320 | likely benign | not specified | 2015-09-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001701689 | SCV000522800 | benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000152896 | SCV000612547 | benign | not specified | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653362 | SCV000775241 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312985 | SCV000848076 | likely benign | Inborn genetic diseases | 2016-06-11 | 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. |
Ce |
RCV001701689 | SCV002822525 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | CACNA1A: BP4, BP7, BS1 |
Prevention |
RCV003985281 | SCV004720364 | likely benign | CACNA1A-related disorder | 2020-04-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV001701689 | SCV001933029 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701689 | SCV001967921 | likely benign | not provided | no assertion criteria provided | clinical testing |