Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513877 | SCV000951497 | likely benign | Blau syndrome; Regional enteritis | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505016 | SCV002816463 | uncertain significance | Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002505016 | SCV003920296 | uncertain significance | Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 | 2021-11-22 | criteria provided, single submitter | clinical testing | NOD2 NM_022162 exon 4 p.Pro727Leu (c.2180C>T): This variant has been reported in the literature in 1 individual with Crohn's disease, identified in cis with an additional truncating variant (Lappalainen 2008 PMID:17941079). This variant is present in 14/126450 European alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs104895489). This variant is present in ClinVar (Variation ID:97845). This variant amino acid leucine (Leu) is present in >10 species; this suggests that this variant may not impact the protein. Additional computational prediction tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Unité médicale des maladies autoinflammatoires, |
RCV000084102 | SCV000116233 | not provided | Blau syndrome | no assertion provided | not provided |