ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.174C>T (p.Leu58=)

dbSNP: rs2065657421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290867 SCV001479087 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290867 SCV001630747 likely benign Neurofibromatosis, type 1 2019-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557502 SCV005048561 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-04 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.

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