Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705549 | SCV000512194 | likely benign | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000473200 | SCV000556865 | benign | Familial hemiplegic migraine | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318377 | SCV000850982 | likely benign | Inborn genetic diseases | 2016-04-14 | 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. |
Genome- |
RCV002259938 | SCV002539790 | benign | Alternating hemiplegia of childhood 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259940 | SCV002539791 | benign | Developmental and epileptic encephalopathy 98 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259939 | SCV002539792 | benign | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259937 | SCV002539793 | benign | Migraine, familial hemiplegic, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972570 | SCV004794863 | likely benign | ATP1A2-related condition | 2021-12-23 | 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). |