ClinVar Miner

Submissions for variant NM_016418.5(NF2):c.1446+5G>A (rs367829184)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541824 SCV000628854 likely benign Neurofibromatosis, type 2 2020-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011622 SCV001171965 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-22 criteria provided, single submitter clinical testing The c.1446+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 13 in the NF2 gene. This nucleotide position is well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, and is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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