ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser)

dbSNP: rs1656013992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330258 SCV001521887 uncertain significance Intellectual disability, autosomal recessive 65 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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