ClinVar Miner

Submissions for variant NM_014920.5(CILK1):c.1434G>A (p.Thr478=)

gnomAD frequency: 0.00004  dbSNP: rs563467548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266817 SCV002548939 uncertain significance Epilepsy, juvenile myoclonic, susceptibility to, 10 2021-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096051 SCV003473140 likely benign not provided 2024-09-10 criteria provided, single submitter clinical testing

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