ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6282T>G (p.Cys2094Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003983367 SCV004800318 uncertain significance ASXL3-related disorder 2024-01-24 no assertion criteria provided clinical testing The ASXL3 c.6282T>G variant is predicted to result in the amino acid substitution p.Cys2094Trp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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