ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg)

dbSNP: rs2145425648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248973 SCV002516231 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-05-04 criteria provided, single submitter clinical testing

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