ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.456A>G (p.Ala152=)

gnomAD frequency: 0.00003  dbSNP: rs377481833
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223487 SCV000278146 likely benign Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000233135 SCV000284468 likely benign Neurofibromatosis, type 1 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001538321 SCV001755954 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Genome-Nilou Lab RCV000233135 SCV002560770 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000121635 SCV000085833 not provided not specified 2013-09-19 no assertion provided reference population

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