ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3690G>T (p.Val1230=)

gnomAD frequency: 0.00004  dbSNP: rs183296277
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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 RCV000221744 SCV000275389 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226195 SCV000284440 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175017 SCV001338533 likely benign not specified 2020-04-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000221744 SCV002527530 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter curation

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