ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.5414del (p.Pro1805fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315172 SCV004014795 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2023-04-17 criteria provided, single submitter clinical testing

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