Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178334 | SCV000230397 | likely benign | not specified | 2014-10-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001781536 | SCV000397256 | likely benign | Inflammatory bowel disease 1 | 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000368536 | SCV000397257 | likely benign | Blau syndrome | 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ce |
RCV000488013 | SCV000575052 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | NOD2: BP4, BS1, BS2 |
Labcorp Genetics |
RCV002517729 | SCV000759547 | likely benign | Blau syndrome; Regional enteritis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000488013 | SCV001477731 | likely benign | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262774 | SCV002543745 | uncertain significance | Autoinflammatory syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488013 | SCV002558424 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | Observed in individuals with inflammatory bowel disease and other auto-inflammatory disorders (Lesage et al., 2002; Yao et al., 2012; Shen et al., 2015; Androletti et al., 2017; Burillo-Sanz et al., 2017; Li et al., 2020); Case control studies suggest this variant may be associated with Crohn's disease (Rivas et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 0.32% (887/280050 alleles) in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32707200, 22942351, 26164256, 28814775, 28422189, 26070941, 11875755, 21983784, 33394828, 33927005, 35211104, 34975878) |