ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2002-5C>G

dbSNP: rs1165625614
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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 RCV002315839 SCV000674092 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-08-19 criteria provided, single submitter clinical testing The c.2002-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 18 in the NF1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001203080 SCV001374226 likely benign Neurofibromatosis, type 1 2024-11-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572165 SCV002527438 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter curation
Genome-Nilou Lab RCV001203080 SCV002561977 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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