ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.2474+1G>A

gnomAD frequency: 0.00009  dbSNP: rs542983923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782332 SCV002016785 likely pathogenic Intellectual disability, autosomal recessive 65 2021-08-13 criteria provided, single submitter clinical testing
New York Genome Center RCV001782332 SCV002097769 likely pathogenic Intellectual disability, autosomal recessive 65 2021-01-15 criteria provided, single submitter clinical testing

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