ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1365C>T (p.Pro455=)

gnomAD frequency: 0.00005  dbSNP: rs544431683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874417 SCV001016590 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487921 SCV002798173 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-04-13 criteria provided, single submitter clinical testing

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