ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6148-5T>C

dbSNP: rs1597842678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476055 SCV001680258 likely benign Neurofibromatosis, type 1 2018-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354832 SCV002659916 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-10 criteria provided, single submitter clinical testing The c.6085-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 41 in the NF1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; 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.

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