ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg)

gnomAD frequency: 0.00002  dbSNP: rs376997378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454178 SCV000537987 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Revvity Omics, Revvity RCV003139595 SCV003827432 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-01-18 criteria provided, single submitter clinical testing

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