ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn)

gnomAD frequency: 0.00009  dbSNP: rs201072457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503177 SCV000593465 benign not specified 2019-03-21 criteria provided, single submitter clinical testing
GeneDx RCV001584211 SCV001819694 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259977 SCV002539576 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004669010 SCV005164665 likely benign Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003960151 SCV004767625 likely benign ASXL3-related disorder 2023-06-22 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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