ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)

dbSNP: rs1141109
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683926 SCV001897833 benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730948 SCV001980945 benign Intellectual disability, autosomal recessive 65 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683926 SCV005288719 benign not provided criteria provided, single submitter not provided

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