ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290413 SCV002581239 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-02-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002290413 SCV003827435 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2020-12-19 criteria provided, single submitter clinical testing

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