ClinVar Miner

Submissions for variant NM_001353108.3(CEP63):c.1068-1G>A

gnomAD frequency: 0.00002  dbSNP: rs752207334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194768 SCV000246999 pathogenic Seckel syndrome 6 2015-05-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000194768 SCV001440889 benign Seckel syndrome 6 2019-01-01 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000194768 SCV001432343 pathogenic Seckel syndrome 6 no assertion criteria provided clinical testing

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