ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1239+18G>A

gnomAD frequency: 0.02063  dbSNP: rs139312964
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241882 SCV000311713 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511531 SCV001718795 benign Holoprosencephaly 5 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001711712 SCV001941492 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711712 SCV005233231 benign not provided criteria provided, single submitter not provided

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