ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)

dbSNP: rs398124241
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081473 SCV000113404 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081473 SCV000311719 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510868 SCV001718016 benign Holoprosencephaly 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001650923 SCV001868582 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001510868 SCV002058028 benign Holoprosencephaly 5 2021-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510868 SCV002804134 likely benign Holoprosencephaly 5 2022-03-28 criteria provided, single submitter clinical testing

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