ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6704+3A>G

gnomAD frequency: 0.00001  dbSNP: rs375560135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165295 SCV000216014 likely benign Hereditary cancer-predisposing syndrome 2016-02-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence
Labcorp Genetics (formerly Invitae), Labcorp RCV000555601 SCV000628726 likely benign Neurofibromatosis, type 1 2024-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000681221 SCV000808681 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002362858 SCV002663232 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-16 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465550 SCV002760911 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000681221 SCV005624679 uncertain significance not provided 2024-02-13 criteria provided, single submitter clinical testing

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