ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)

dbSNP: rs61462443
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001682945 SCV001898881 benign not provided 2021-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33337535)
Fulgent Genetics, Fulgent Genetics RCV002503922 SCV002809502 likely benign Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-01-18 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002503922 SCV004812811 benign Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 77.92% (rs779500270, 8811/11110 alleles, 3564 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1
CHU Sainte-Justine Research Center, University of Montreal RCV000240501 SCV000299198 uncertain significance Oromandibular-limb hypogenesis spectrum 2016-08-12 no assertion criteria provided research

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