ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6053C>T (p.Pro2018Leu)

gnomAD frequency: 0.00010  dbSNP: rs752977390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001686448 SCV001901998 benign not provided 2020-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001686448 SCV004701144 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ASXL3: BS1

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