ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1579C>T (p.Gln527Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326684 SCV003927813 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2023-04-01 no assertion criteria provided clinical testing

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