ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3352dup (p.Ala1118fs)

dbSNP: rs2145423903
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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 RCV001706789 SCV001934286 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2020-11-02 criteria provided, single submitter clinical testing

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