ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.4008G>C (p.Lys1336Asn)

gnomAD frequency: 0.00001  dbSNP: rs754856422
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839322 SCV002099314 uncertain significance Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2021-03-26 criteria provided, single submitter clinical testing

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