ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3511A>T (p.Lys1171Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140628 SCV003807585 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-09-08 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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