ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-5T>C

gnomAD frequency: 0.00001  dbSNP: rs772759508
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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 RCV000218993 SCV000276542 likely benign Hereditary cancer-predisposing syndrome 2015-06-26 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 RCV000632582 SCV000753767 likely benign Neurofibromatosis, type 1 2025-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632582 SCV002560751 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338692 SCV002639749 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-01-18 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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