ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2322T>C (p.Thr774=)

dbSNP: rs770111990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001469932 SCV002567753 likely benign Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001469932 SCV002559966 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469932 SCV001674021 likely benign Neurofibromatosis, type 1 2024-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319221 SCV001175998 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-06-14 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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