ClinVar Miner

Submissions for variant NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)

dbSNP: rs1775537467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001093584 SCV002765116 pathogenic Lissencephaly 10 2022-11-29 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2,PS3,PS4_MOD,PM5,PM2_SUP,PP4
OMIM RCV001093584 SCV001250599 pathogenic Lissencephaly 10 2020-05-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001257933 SCV001434742 likely pathogenic Posterior Predominant Lissencephaly no assertion criteria provided literature only

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