ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2061A>C (p.Leu687=)

dbSNP: rs143671377
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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 RCV002319204 SCV001174970 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-05-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001413897 SCV001616019 likely benign Neurofibromatosis, type 1 2024-08-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001413897 SCV002561632 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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