ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)

dbSNP: rs762939072
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882691 SCV001025948 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000882691 SCV001939056 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260096 SCV002539522 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002260096 SCV003825153 uncertain significance Bohring-Opitz syndrome 2019-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550020 SCV004779962 likely benign ASXL1-related disorder 2019-02-18 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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