ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.*954C>G

gnomAD frequency: 0.00393  dbSNP: rs150500194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291638 SCV000403590 uncertain significance Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422287 SCV004140727 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing KANSL1: BS1
Breakthrough Genomics, Breakthrough Genomics RCV003422287 SCV005192929 uncertain significance not provided criteria provided, single submitter not provided

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