ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter)

dbSNP: rs876661324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796117 SCV005417908 pathogenic Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting
Laboratory of Molecular Genetics, CHU Rennes RCV000223706 SCV000268719 likely pathogenic Microform holoprosencephaly 2016-04-13 no assertion criteria provided clinical testing

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