Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000283785 | SCV000414519 | likely benign | Familial cold autoinflammatory syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560378 | SCV000646333 | benign | Familial cold autoinflammatory syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000560378 | SCV000743600 | benign | Familial cold autoinflammatory syndrome 2 | 2016-07-06 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000560378 | SCV000744915 | likely benign | Familial cold autoinflammatory syndrome 2 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000560378 | SCV001157664 | benign | Familial cold autoinflammatory syndrome 2 | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000084148 | SCV001502268 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | NLRP12: BP4, BP7, BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV002262684 | SCV002542525 | benign | Autoinflammatory syndrome | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000560378 | SCV003920282 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | NLRP12 c.2833C>A Heterozygous. Heterozygous missense mutations of this gene can cause Familial cold autoinflammatory syndrome 2. The identified heterozygous variant is predicted to be a synonymous substitution with no change in the amino acid sequence but may have an unknown effect on splicing. This variant has not been reported in the literature and has rarely been reported in publicly available databases of healthy individuals. Therefore, the clinical significance of this heterozygous variant is uncertain. |
Prevention |
RCV003915109 | SCV004734233 | benign | NLRP12-related disorder | 2019-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Unité médicale des maladies autoinflammatoires, |
RCV000084148 | SCV000116279 | not provided | not provided | no assertion provided | not provided |