ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1318dup (p.Leu440fs)

dbSNP: rs397515364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007017 SCV000027213 pathogenic Holoprosencephaly 5 1998-10-01 no assertion criteria provided literature only
GeneReviews RCV000007017 SCV000086591 pathologic Holoprosencephaly 5 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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