ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4110+3A>G

gnomAD frequency: 0.00001  dbSNP: rs774669878
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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 RCV000215798 SCV000273573 likely benign Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Labcorp Genetics (formerly Invitae), Labcorp RCV000467410 SCV000542023 likely benign Neurofibromatosis, type 1 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321843 SCV002628026 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-11-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478786 SCV002774822 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing

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