Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000488340 | SCV000242644 | likely benign | not provided | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32090326, 23884151, 26501104, 21248271, 27231140, 21719429) |
Eurofins Ntd Llc |
RCV000488340 | SCV000341238 | uncertain significance | not provided | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000488340 | SCV000575245 | uncertain significance | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | SCN1A: PP2, PP3 |
Labcorp Genetics |
RCV000692247 | SCV000820060 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-07-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001136462 | SCV001296300 | uncertain significance | Migraine, familial hemiplegic, 3 | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001136463 | SCV001296301 | uncertain significance | Generalized epilepsy with febrile seizures plus, type 2 | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Athena Diagnostics | RCV000488340 | SCV001475473 | likely benign | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345677 | SCV002650327 | likely benign | Inborn genetic diseases | 2020-03-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Institute of Human Genetics, |
RCV003128398 | SCV003804914 | uncertain significance | See cases | 2022-12-05 | criteria provided, single submitter | clinical testing | ACMG categories: PM2,PP3,BP1 |