ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.364-3C>T

dbSNP: rs2065829595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229974 SCV001402438 likely benign Neurofibromatosis, type 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348774 SCV002619346 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-02 criteria provided, single submitter clinical testing The c.364-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 4 in the NF2 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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