ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2898-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005254418 SCV005906683 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant with an unclear effect on protein function; Has not been previously published as pathogenic or benign to our knowledge

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