ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.353+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science,University of Waterloo RCV001376181 SCV001573232 likely pathogenic Bare lymphocyte syndrome 2 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice donor variant in gene RFX5 that may disrupt mRNA splicing and result in an absent or disrupted protein product. Its corresponding splice acceptor NC_000001.11:g.151344848C>T for the same exon 6 of transcript NM_001025603.2 had been reported as pathogenic for Bare lymphocyte syndrome, type II (ClinVar 7646).

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