ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.546G>T (p.Gly182=)

gnomAD frequency: 0.00254  dbSNP: rs200407312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871014 SCV001012606 benign Holoprosencephaly 5 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001638007 SCV001851508 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing

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