ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del)

dbSNP: rs61462443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203033 SCV000257770 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001574029 SCV001943064 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003993889 SCV004812625 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 18.48% (rs779500270, 1399/23430 alleles, 15 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001574029 SCV001800727 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001574029 SCV001971181 likely benign not provided no assertion criteria provided clinical testing

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