ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1714del (p.Lys571_Ile572insTer)

dbSNP: rs2145413424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706896 SCV001934460 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-02-26 criteria provided, single submitter clinical testing

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