ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4202del (p.Ser1401fs)

dbSNP: rs1583728165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856781 SCV000999338 pathogenic Greig cephalopolysyndactyly syndrome criteria provided, single submitter clinical testing

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