ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.213G>A (p.Pro71=)

gnomAD frequency: 0.00325  dbSNP: rs189469383
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241959 SCV000311716 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644626 SCV000766328 benign Holoprosencephaly 5 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001711567 SCV001941493 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000644626 SCV004564055 benign Holoprosencephaly 5 2023-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711567 SCV005233228 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000241959 SCV001954799 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001711567 SCV001971682 likely benign not provided no assertion criteria provided clinical testing

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