ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6428-5T>C

dbSNP: rs1597843627
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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 RCV002354941 SCV001187319 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-08-22 criteria provided, single submitter clinical testing The c.6365-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 42 in the NF1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on the splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001451717 SCV001655358 likely benign Neurofibromatosis, type 1 2023-02-13 criteria provided, single submitter clinical testing

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