ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127457 SCV003804041 pathogenic Autism spectrum disorder 2022-02-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003491320 SCV004238481 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2023-03-08 criteria provided, single submitter clinical testing

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