ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly)

gnomAD frequency: 0.00134  dbSNP: rs190659120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698292 SCV000532632 benign not provided 2019-04-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28785287)
Genetic Services Laboratory, University of Chicago RCV000435230 SCV000593468 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259949 SCV002539565 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 RCV001698292 SCV004140931 benign not provided 2023-11-01 criteria provided, single submitter clinical testing ASXL3: BP4, BS1, BS2

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