ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter)

dbSNP: rs1442037817
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353277 SCV001548402 pathogenic Neurofibromatosis, type 1 2019-01-01 no assertion criteria provided clinical testing

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