Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001151101 | SCV001312204 | benign | Atypical hemolytic-uremic syndrome with I factor anomaly | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Labcorp Genetics |
RCV001461727 | SCV001665635 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001461727 | SCV001713308 | uncertain significance | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing |