ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe)

gnomAD frequency: 0.00008  dbSNP: rs149543947
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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 RCV001047574 SCV001211540 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-08-16 criteria provided, single submitter clinical testing
GeneDx RCV005001138 SCV005626611 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function

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