ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003780269 SCV004603736 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-07-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040500 SCV005666522 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-04-20 criteria provided, single submitter clinical testing

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