ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)

gnomAD frequency: 0.00001  dbSNP: rs753224880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528716 SCV000628767 likely benign Neurofibromatosis, type 1 2024-09-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000528716 SCV000782103 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420367 SCV001188548 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV001026211 SCV002528091 likely benign Hereditary cancer-predisposing syndrome 2021-04-14 criteria provided, single submitter curation

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