ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=)

gnomAD frequency: 0.00056  dbSNP: rs377152896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656151 SCV001864818 benign not provided 2020-03-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821940 SCV002066572 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260258 SCV002539574 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001656151 SCV004140948 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing ASXL3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003910942 SCV004722096 likely benign ASXL3-related disorder 2019-07-29 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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