ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3438C>T (p.Val1146=)

dbSNP: rs876659646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218604 SCV000276330 likely benign Hereditary cancer-predisposing syndrome 2015-06-08 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 RCV000529647 SCV000628521 likely benign Neurofibromatosis, type 1 2022-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000529647 SCV002560668 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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