ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.*1042dup

gnomAD frequency: 0.01529  dbSNP: rs200076691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336075 SCV000469018 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374320 SCV000469019 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282401 SCV000469020 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing

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