ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp)

gnomAD frequency: 0.00003  dbSNP: rs765815936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784108 SCV002025615 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2020-06-11 criteria provided, single submitter clinical testing
GeneDx RCV001843597 SCV002102710 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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