ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7416T>C (p.Pro2472=)

dbSNP: rs876659624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214661 SCV000276289 likely benign Hereditary cancer-predisposing syndrome 2015-06-04 criteria provided, single submitter clinical testing Rarity in general population databases (dbSNP, ESP, 1000 Genomes);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV002057203 SCV002374024 likely benign Neurofibromatosis, type 1 2023-04-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002057203 SCV002561292 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV002057203 SCV002567755 likely benign Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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