ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.138-1G>A

dbSNP: rs2078522740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267600 SCV001445782 likely pathogenic Inborn genetic diseases 2019-07-05 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV003150417 SCV002570418 likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-09-09 no assertion criteria provided research

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