ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2128C>T (p.Gln710Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795548 SCV005416080 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4

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