ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.843C>T (p.Ile281=)

dbSNP: rs146094856
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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 RCV000221629 SCV000275000 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 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 RCV001485868 SCV001690317 likely benign Neurofibromatosis, type 1 2022-10-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000221629 SCV002528156 likely benign Hereditary cancer-predisposing syndrome 2021-07-20 criteria provided, single submitter curation
Genome-Nilou Lab RCV001485868 SCV002561390 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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