Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000863845 | SCV001004567 | likely benign | Dystonia 12 | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001135539 | SCV001295321 | benign | Alternating hemiplegia of childhood 2 | 2017-05-03 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000863845 | SCV001295322 | benign | Dystonia 12 | 2017-05-03 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Genome- |
RCV001135539 | SCV002539044 | benign | Alternating hemiplegia of childhood 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260079 | SCV002539045 | benign | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260080 | SCV002539046 | benign | Developmental and epileptic encephalopathy 99 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000863845 | SCV002539047 | benign | Dystonia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing |