ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4890_4893del (p.Lys1631fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287629 SCV002577734 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6

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