ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2373G>A (p.Pro791=)

gnomAD frequency: 0.00267  dbSNP: rs61754622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249563 SCV000302804 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000538308 SCV000630789 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001705332 SCV000724522 likely benign not provided 2020-04-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249563 SCV000856687 benign not specified 2017-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494697 SCV002798835 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-07-20 criteria provided, single submitter clinical testing

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