ClinVar Miner

Submissions for variant NM_015076.5(CDK19):c.589T>C (p.Phe197Leu)

dbSNP: rs1779473436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital RCV001252681 SCV001428440 likely pathogenic Developmental and epileptic encephalopathy, 87 2020-08-11 no assertion criteria provided clinical testing De novo variant, in conserved residue, absent in population databases, located in functional domain with other variants

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