ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.*248dup

dbSNP: rs5883809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307719 SCV000469072 uncertain significance Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364747 SCV000469073 uncertain significance Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272370 SCV000469074 uncertain significance Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430938 SCV004156790 benign not provided 2022-04-01 criteria provided, single submitter clinical testing GLI3: BS1, BS2

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