Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002220557 | SCV002362536 | likely benign | Familial cold autoinflammatory syndrome 2 | 2023-11-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002220557 | SCV004563561 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-11-08 | criteria provided, single submitter | clinical testing | The NLRP12 c.2754G>A; p.Leu918= variant (rs61741347), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1566788). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is a synonymous variant and computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant does not alter splicing. However, since this variant is located within the minimal splice region, the clinical significance of this variant is uncertain at this time. |