ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1409A>C (p.His470Pro)

gnomAD frequency: 0.01034  dbSNP: rs80040227
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515110 SCV000610705 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000515110 SCV001094065 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000515110 SCV001843882 benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259979 SCV002539558 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 RCV000515110 SCV005215263 likely benign not provided criteria provided, single submitter not provided

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