Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV001356896 | SCV001552179 | uncertain significance | Neurofibromatosis, type 2 | no assertion criteria provided | clinical testing | The NF2 n.558-8delT variant was not identified in the literature no ClinVar database. The variant was identified in dbSNP (ID: rs5844863) database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, or the Genome Aggregation Database (March 6, 2019, v2.1.1). |