Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632676 | SCV000753862 | uncertain significance | Neurofibromatosis, type 2 | 2018-01-05 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 5 of the NF2 gene. It preserves the integrity of the reading frame. A similar deletion of exon 5 has been reported in an individual affected with neurofibromatosis type 2 (PMID: 19968670). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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. |