Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652416 | SCV000774286 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000652416 | SCV002495867 | uncertain significance | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2021-03-30 | criteria provided, single submitter | clinical testing | NLRC4 NM_021209.4 exon 4 p.Ala160Thr (c.478G>A): This variant has not been reported in the literature but is present in 0.1% (86/68034) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-32251386-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:542049). This variant amino acid Threonine (Thr) is present in >20 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Genome Diagnostics Laboratory, |
RCV002263918 | SCV002542415 | benign | Autoinflammatory syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001701430 | SCV004701476 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | NLRC4: BP4, BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV001701430 | SCV001926554 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701430 | SCV001970677 | likely benign | not provided | no assertion criteria provided | clinical testing |