Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000180351 | SCV000166878 | benign | not specified | 2014-03-22 | 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. |
EGL Genetic Diagnostics, |
RCV000180351 | SCV000232764 | benign | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000180351 | SCV000258150 | benign | not specified | 2015-04-12 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000003830 | SCV000355249 | benign | Coenzyme Q10 deficiency, primary, 4 | 2018-03-06 | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Ce |
RCV000415784 | SCV000493421 | likely benign | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000180351 | SCV000538237 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency in ExAC 2.8% in european population with (24 homozygotes). Also Benign in Clinvar (by GeneDx and Emory) |
ARUP Laboratories, |
RCV000003830 | SCV000884981 | benign | Coenzyme Q10 deficiency, primary, 4 | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV001258271 | SCV001435196 | benign | Joubert syndrome 17 | criteria provided, single submitter | research | The c.993C>T (p.Phe331=) variant in ADCK3 has been identified in a French and Algerian individual with ubiquinone deficiency with cerebellar ataxia (PMID: 18319074), but has also been identified in >4% of European (Finnish) chromosomes and 33 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the c.993C>T variant may not impact protein function (PMID: 18319074). However, these types of assays may not accurately represent biological function. In summary, this variant meets criteria to be classified as benign for autosomal recessive ubiquinone deficiency with cerebellar ataxia. | |
OMIM | RCV000003830 | SCV000023995 | pathogenic | Coenzyme Q10 deficiency, primary, 4 | 2008-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003830 | SCV000494096 | pathogenic | Coenzyme Q10 deficiency, primary, 4 | 2016-06-07 | no assertion criteria provided | literature only | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000415784 | SCV000801931 | benign | not provided | 2016-02-25 | no assertion criteria provided | clinical testing |