ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr)

gnomAD frequency: 0.00018  dbSNP: rs200334892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192935 SCV000246605 likely benign not specified 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV001651054 SCV001866485 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259733 SCV002539559 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947595 SCV004763327 benign ASXL3-related disorder 2024-01-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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