ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3198-330A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002322915 SCV002609660 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-20 criteria provided, single submitter clinical testing The c.3198-330A>G intronic variant results from an A to G substitution 330 nucleotides upstream from coding exon 25 in the NF1 gene. This nucleotide position is conserved on limited sequence alignment. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572236 SCV005052207 uncertain significance Juvenile myelomonocytic leukemia 2024-03-04 criteria provided, single submitter clinical testing

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