Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454909 | SCV000539158 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported as a risk factor for lupus nephritis, severe malaria, p. aeurginosa infection, and reduced risk for ulcerative colitis - questionable and unrelated to patient disease. |
OMIM | RCV000015946 | SCV000036213 | risk factor | Lupus nephritis, susceptibility to | 2010-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000015947 | SCV000036214 | risk factor | Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | 2010-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000054529 | SCV000083007 | risk factor | Malaria, severe, susceptibility to | 2010-07-01 | no assertion criteria provided | literature only |