ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4953C>T (p.Asn1651=)

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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 RCV003946988 SCV004759751 likely benign ASXL3-related disorder 2019-04-25 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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