ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)

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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 RCV003326214 SCV004032286 likely pathogenic Schwannomatosis 1 2023-08-14 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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