ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met)

gnomAD frequency: 0.00001  dbSNP: rs747561057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329422 SCV001520863 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-05-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV001329422 SCV002025706 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2020-04-18 criteria provided, single submitter clinical testing

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