Total 1 pathogenic variants reported for Neurofibromatosis type 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)	SNV Germline	Chr17:31236021	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	Criteria Provided Multiple Submitters No Conflicts	CA338737	rs_863224447	4 SubmittersRCV000199605 RCV002318958 RCV002515460