Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Prevention |
RCV000248423 | SCV000304424 | benign | not specified | criteria provided, single submitter | clinical testing | ||
| Illumina Laboratory Services, |
RCV000395432 | SCV000470525 | benign | Peroxisome biogenesis disorder 1A (Zellweger) | 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 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, |
RCV000586778 | SCV000696797 | benign | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | Variant summary: The PEX1 c.358-11G>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction the strenghtening of a canonical splice acceptor site site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4339/121280 control chromosomes (85 homozygotes) at a frequency of 0.0357767, which is approximately 9 times the estimated maximal expected allele frequency of a pathogenic PEX1 variant (0.003873), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
| Gene |
RCV000586778 | SCV000971703 | 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 | RCV001277063 | SCV001727035 | benign | Zellweger spectrum disorders | 2024-02-01 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001277063 | SCV001463798 | benign | Zellweger spectrum disorders | 2020-09-16 | no assertion criteria provided | clinical testing |