ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del)

dbSNP: rs2152163821
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Total submissions: 1
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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 RCV001724748 SCV001950019 uncertain significance Holoprosencephaly 5 2021-10-11 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM4, PM2_SUP

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