Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202800 | SCV000258187 | uncertain significance | not specified | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000302918 | SCV000397170 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001781432 | SCV000397171 | 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. |
Invitae | RCV002514489 | SCV000759551 | benign | Blau syndrome; Regional enteritis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811398 | SCV001473677 | likely benign | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262681 | SCV002542331 | benign | Autoinflammatory syndrome | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811398 | SCV004139308 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | NOD2: BS1, BS2 |
Unité médicale des maladies autoinflammatoires, |
RCV000302918 | SCV000116268 | not provided | Blau syndrome | no assertion provided | not provided |