ClinVar Miner

Submissions for variant NM_001099402.2(CCNK):c.736G>A (p.Val246Ile)

gnomAD frequency: 0.00001  dbSNP: rs750789680
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291721 SCV001480307 uncertain significance Intellectual developmental disorder with hypertelorism and distinctive facies 2019-10-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001291721 SCV003829372 uncertain significance Intellectual developmental disorder with hypertelorism and distinctive facies 2022-04-21 criteria provided, single submitter clinical testing

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