ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4470C>T (p.Ser1490=)

gnomAD frequency: 0.00033  dbSNP: rs185893902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609309 SCV001840491 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001609309 SCV004140944 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ASXL3: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003941047 SCV004754767 likely benign ASXL3-related disorder 2022-02-15 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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