Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723684 | SCV000110548 | uncertain significance | not provided | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723684 | SCV000243445 | likely benign | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Genetic Services Laboratory, |
RCV000189797 | SCV000249174 | uncertain significance | not specified | 2015-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000723684 | SCV000559672 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000723684 | SCV000615825 | likely benign | not provided | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000674709 | SCV000800095 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316221 | SCV000851533 | likely benign | Inborn genetic diseases | 2021-10-21 | 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. |
Ce |
RCV000723684 | SCV001148177 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000674709 | SCV001262905 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Center for Genomics, |
RCV001280958 | SCV001468330 | uncertain significance | Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 | 2021-03-30 | criteria provided, single submitter | clinical testing | TPP1 NM_000391.3 exon 1 p.Ala5Asp (c.14C>A): This variant has not been reported in the literature but is present in 0.2% (70/25122) of Finnish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-6640618-G-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:92884). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Baylor Genetics | RCV000674709 | SCV001528401 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2018-02-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Natera, |
RCV000674709 | SCV001458799 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-04-14 | no assertion criteria provided | clinical testing |