ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1402del (p.Ser468fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002280605 SCV002568872 likely pathogenic Choroideremia 2022-09-01 criteria provided, single submitter clinical testing The variant c.1402del (p.(Ser468Glnfs*8)) in exon 11 of the CHM gene is not found in the gnomAD database and it creates a frame shift starting at codon Ser468. The new reading frame ends in a STOP codon at position 8. ACMG criteria used for classification: PVS1, PM2.

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