Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003767079 | SCV000655687 | benign | Myoclonic-atonic epilepsy | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315024 | SCV000847618 | likely benign | Inborn genetic diseases | 2019-01-28 | 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. |
Eurofins Ntd Llc |
RCV000734754 | SCV000862922 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV003444575 | SCV000895524 | uncertain significance | Myoclonic-astatic epilepsy | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003444575 | SCV000898983 | uncertain significance | Myoclonic-astatic epilepsy | 2021-03-30 | criteria provided, single submitter | clinical testing | SLC6A1 NM_003042.3 exon 12 p.Arg417His (c.1250G>A): This variant has not been reported in the literature but is present in 0.02% (9/34294) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/3-11070965-G-A). This variant is present in ClinVar (Variation ID:475469). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Athena Diagnostics Inc | RCV000734754 | SCV001879858 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734754 | SCV001910307 | benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003444575 | SCV002548738 | uncertain significance | Myoclonic-astatic epilepsy | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000734754 | SCV004146952 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SLC6A1: PP2, BS1, BS2 |