ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=)

gnomAD frequency: 0.00737  dbSNP: rs75411012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545421 SCV001764748 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821875 SCV002067353 benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260192 SCV002539577 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545421 SCV005215272 likely benign not provided criteria provided, single submitter not provided

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