ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1706C>A (p.Thr569Asn)

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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 RCV004750135 SCV005367306 likely benign ASXL3-related disorder 2024-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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