ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2013del (p.Ser673fs)

dbSNP: rs876661325
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, CHU Rennes RCV000223797 SCV000268720 likely pathogenic Microform holoprosencephaly 2016-04-13 no assertion criteria provided clinical testing

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