Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001771437 | SCV002002689 | uncertain significance | not provided | 2024-03-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Labcorp Genetics |
RCV003635968 | SCV004517394 | likely benign | Fanconi anemia | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004738375 | SCV005361068 | uncertain significance | FANCM-related disorder | 2024-05-09 | no assertion criteria provided | clinical testing | The FANCM c.5532A>G variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from uncertain significance to likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/1314206/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |