ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2870C>T (p.Thr957Ile)

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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 RCV004740867 SCV005364983 uncertain significance ASXL1-related disorder 2024-05-01 no assertion criteria provided clinical testing The ASXL1 c.2870C>T variant is predicted to result in the amino acid substitution p.Thr957Ile. 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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