Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116447 | SCV000167115 | benign | not specified | 2012-11-26 | 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 | RCV000226425 | SCV000285579 | benign | Familial hemiplegic migraine | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710687 | SCV000840971 | benign | not provided | 2018-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312037 | SCV000846456 | benign | Inborn genetic diseases | 2016-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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- |
RCV002259619 | SCV002539675 | benign | Alternating hemiplegia of childhood 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259621 | SCV002539676 | benign | Developmental and epileptic encephalopathy 98 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259620 | SCV002539677 | benign | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259618 | SCV002539678 | benign | Migraine, familial hemiplegic, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116447 | SCV000150372 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Laboratory of Diagnostic Genome Analysis, |
RCV000710687 | SCV002035549 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000710687 | SCV002037918 | likely benign | not provided | no assertion criteria provided | clinical testing |