Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669425 | SCV000794175 | uncertain significance | Bloom syndrome | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000669425 | SCV003027572 | uncertain significance | Bloom syndrome | 2022-10-05 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 553890). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.228_233del, results in the deletion of 2 amino acid(s) of the BLM protein (p.Leu77_Pro78del), but otherwise preserves the integrity of the reading frame. |