ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1497C>A (p.Gly499=)

dbSNP: rs186543347
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001492572 SCV001697186 likely benign Holoprosencephaly 5 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001492572 SCV002810159 likely benign Holoprosencephaly 5 2021-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883673 SCV004700735 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ZIC2: BP4, BP7

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