ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) (rs121434260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Swedish Neurofibromatosis Center,Swedish Medical Center RCV000003449 SCV001162776 likely pathogenic Neurofibromatosis, type 2 2020-02-24 criteria provided, single submitter clinical testing PM1, PM2, PM4, PP3,PP5, PP4
OMIM RCV000003449 SCV000023607 pathogenic Neurofibromatosis, type 2 1994-08-01 no assertion criteria provided literature only

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