ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1340+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003448541 SCV004175990 likely pathogenic Schwannomatosis 1 2023-11-23 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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