ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)

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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 RCV003796323 SCV004582251 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038514 SCV005666577 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-01-31 criteria provided, single submitter clinical testing

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