ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1242+8G>A

gnomAD frequency: 0.00026  dbSNP: rs75925934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194908 SCV000247480 benign not specified 2020-09-08 criteria provided, single submitter clinical testing
Invitae RCV000864279 SCV001005059 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492878 SCV002803279 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-10-11 criteria provided, single submitter clinical testing

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