Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001280984 | SCV001468368 | uncertain significance | Coronary heart disease, susceptibility to, 1; Susceptibility to HIV infection; Age related macular degeneration 12 | 2021-03-30 | criteria provided, single submitter | clinical testing | CX3CR1 NM_001171174.1 exon 1 p.Pro4Ala (c.10C>G): This variant has not been reported in the literature but is present in 0.8% (1048/123526) of European alleles, including 5 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3-39323177-G-C?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Breakthrough Genomics, |
RCV004692402 | SCV005189748 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003918817 | SCV004733490 | benign | CX3CR1-related disorder | 2020-03-04 | no assertion criteria provided | 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). |