ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3124T>C (p.Ser1042Pro)

gnomAD frequency: 0.00070  dbSNP: rs201364738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666746 SCV001884593 benign not provided 2021-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666746 SCV005215266 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004953001 SCV005497280 likely benign Inborn genetic diseases 2024-09-04 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 RCV003948663 SCV004770983 likely benign ASXL3-related disorder 2023-08-14 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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