ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330194 SCV004037210 likely pathogenic Neurofibromatosis, type 1 2022-07-05 criteria provided, single submitter clinical testing

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