ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.4081C>G (p.Pro1361Ala)

dbSNP: rs746659778
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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 RCV001329117 SCV001520445 uncertain significance Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2020-09-11 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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