ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294063 SCV001482856 pathogenic Neurofibromatosis, type 2 2020-06-16 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. Variants resulting in the same premature stop codon have been previously reported as diseases-causing in multiple individuals [PMID 8012353, 18766994, 25525159]

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