ClinVar Miner

Submissions for variant NM_014920.5(CILK1):c.1344-4T>A

gnomAD frequency: 0.00001  dbSNP: rs370955882
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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 RCV000998622 SCV001154779 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391286 SCV001593235 uncertain significance Congenital ocular coloboma; Microphthalmia; Dysplastic corpus callosum 2021-05-12 criteria provided, single submitter clinical testing

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