ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.115-8101del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System 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). 

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