ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)

gnomAD frequency: 0.00001  dbSNP: rs764053964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000985126 SCV002518531 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000985126 SCV003825176 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-03-18 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985126 SCV001133110 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-09-26 no assertion criteria provided clinical testing

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