ClinVar Miner

Submissions for variant NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu)

dbSNP: rs201527519
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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 RCV001332563 SCV001524932 uncertain significance Intellectual disability, autosomal recessive 56 2019-03-02 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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