Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244237 | SCV000303461 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000244237 | SCV000340676 | benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514084 | SCV000610127 | likely benign | not provided | 2017-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082436 | SCV001028401 | benign | Peroxisome biogenesis disorder | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987702 | SCV001137121 | benign | Peroxisome biogenesis disorder 4A (Zellweger) | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000987702 | SCV001320382 | benign | Peroxisome biogenesis disorder 4A (Zellweger) | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000514084 | SCV001828754 | benign | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30245029, 19105186, 20981092, 22995991) |
Ce |
RCV000514084 | SCV004161625 | benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | PEX6: BS1, BS2 |
Natera, |
RCV001276733 | SCV001463261 | benign | Zellweger spectrum disorders | 2020-01-06 | no assertion criteria provided | clinical testing |