Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001257069 | SCV000627060 | benign | Inflammatory bowel disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000767995 | SCV001745976 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | IL10: BP4 |
Center for Genomics, |
RCV003224318 | SCV003920055 | uncertain significance | Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to | 2021-03-30 | criteria provided, single submitter | clinical testing | IL10 NM_000572.2 exon 1 p.Gly15Arg (c.43G>A): This variant has been reported in the literature in at least 2 individuals with inflammatory bowel disease (IBD), segregating with disease in 1 affected family member (van der Linde 2003 PMID:12825869, Christodolou 2013 PMID:22543157). However, this variant is present in 0.3% (430/126546) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-206945738-C-T). This variant is present in ClinVar (Variation ID:456662). This variant amino acid Arginine (Arg) is present in 3 mammals (Dolphin, Killer Whale, Megabat); this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. Of note, computational tools designed to predict splicing suggest a potential effect from this variant. However, further studies are needed to understand its impact. In addition, in vitro functional studies also suggest that this variant will impact the protein (van der Linde 2003 PMID:12825869). However, these studies may not accurately represent in vivo biological function. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Mayo Clinic Laboratories, |
RCV000767995 | SCV004224774 | uncertain significance | not provided | 2022-08-03 | criteria provided, single submitter | clinical testing | BS4, BP4, PS3_supporting |
Laboratory of Diagnostic Genome Analysis, |
RCV000767995 | SCV001797564 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000767995 | SCV001932498 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000767995 | SCV001970733 | likely benign | not provided | no assertion criteria provided | clinical testing |