Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078572 | SCV000110428 | benign | not specified | 2013-07-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000078572 | SCV000303464 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000364141 | SCV000463345 | benign | Peroxisome biogenesis disorder 4A (Zellweger) | 2018-01-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000078572 | SCV000917989 | benign | not specified | 2018-04-06 | criteria provided, single submitter | clinical testing | Variant summary: Variant c.2364G>A (p.Val788Val) affects a non-conserved neucleotide resulting a synonymous change in the ATPase, AAA-type, core domain of the encoded protein. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.086 in 276948 control chromosomes in the gnomAD database, including 1712 homozygotes. The observed variant frequency is approximately 44.65 fold of the estimated maximal expected allele frequency for a pathogenic variant in PEX6 causing Zellweger Syndrome phenotype (0.0019), strongly suggesting that the variant is benign. c.2364G>A has been reported in the literature in individuals affected with Zellweger Syndrome and authors listed variant as SNP and neutral (Yik_2009). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar and classified the variant as benign (2 labs)/likely benign (1 lab). Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV000676092 | SCV000973687 | benign | not provided | 2018-06-13 | 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. |
Invitae | RCV001510502 | SCV001717553 | benign | Peroxisome biogenesis disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543732 | SCV001762568 | benign | Heimler syndrome 2 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000364141 | SCV001762569 | benign | Peroxisome biogenesis disorder 4A (Zellweger) | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543733 | SCV001762570 | benign | Peroxisome biogenesis disorder 4B | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676092 | SCV000801830 | benign | not provided | 2015-10-23 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001276613 | SCV001463065 | benign | Zellweger spectrum disorders | 2020-09-16 | no assertion criteria provided | clinical testing |