ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1082+1781_3039+950del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791293 SCV000930572 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-03-07 criteria provided, single submitter clinical testing

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