Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001863081 | SCV002160868 | uncertain significance | Fanconi anemia | 2020-11-15 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the FANCL gene. It does not directly change the encoded amino acid sequence of the FANCL protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 23613520). This variant has been observed in individual(s) with Fanconi anemia (PMID: 23613520). ClinVar contains an entry for this variant (Variation ID: 929821). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. |
| Baylor Genetics | RCV001195064 | SCV004197259 | likely pathogenic | Fanconi anemia complementation group L | 2023-10-05 | criteria provided, single submitter | clinical testing | |
| Leiden Open Variation Database | RCV001195064 | SCV001365349 | pathogenic | Fanconi anemia complementation group L | 2014-10-05 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |