Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000711300 | SCV000229838 | uncertain significance | not provided | 2015-03-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000194104 | SCV000249415 | uncertain significance | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515269 | SCV000611531 | uncertain significance | Cohen syndrome | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000515269 | SCV000755395 | likely benign | Cohen syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000711300 | SCV000841640 | uncertain significance | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314637 | SCV000849176 | likely benign | Inborn genetic diseases | 2021-11-03 | 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. |
Center for Genomics, |
RCV000515269 | SCV001190426 | uncertain significance | Cohen syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | VPS13B NM_017890.4 exon39 p.Asn2164Ser (c.6491A>G): This variant has not been reported in the literature but is present in 0.1% (48/30532) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-100712122-A-G). This variant is also present in ClinVar (Variation ID: 196985). This variant amino acid Serine (Ser) is present in 40 species including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Illumina Laboratory Services, |
RCV000515269 | SCV001326106 | uncertain significance | Cohen syndrome | 2018-03-02 | 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. |
Genome- |
RCV000515269 | SCV001653495 | uncertain significance | Cohen syndrome | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711300 | SCV001823468 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000515269 | SCV004046485 | uncertain significance | Cohen syndrome | 2023-01-13 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000515269 | SCV004046667 | uncertain significance | Cohen syndrome | criteria provided, single submitter | not provided | ||
Ce |
RCV000711300 | SCV004811028 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | VPS13B: BP4 |
Natera, |
RCV000515269 | SCV001460395 | likely benign | Cohen syndrome | 2020-01-02 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003982929 | SCV004797038 | likely benign | VPS13B-related disorder | 2022-02-01 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Dr. |
RCV000515269 | SCV005061442 | benign | Cohen syndrome | no assertion criteria provided | clinical testing |