ClinVar Miner

Submissions for variant NM_014920.5(CILK1):c.304A>C (p.Ile102Leu)

dbSNP: rs748539319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998625 SCV001154782 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391287 SCV001593236 uncertain significance Congenital ocular coloboma; Microphthalmia; Dysplastic corpus callosum 2021-05-12 criteria provided, single submitter clinical testing

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