Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000473518 | SCV000558840 | benign | Fanconi anemia complementation group E | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000473518 | SCV001314767 | benign | Fanconi anemia complementation group E | 2017-05-06 | 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. |
Genetic Services Laboratory, |
RCV000121015 | SCV002069823 | benign | not specified | 2018-07-05 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000473518 | SCV004017675 | benign | Fanconi anemia complementation group E | 2023-07-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121015 | SCV000085183 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |