ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1063G>A (p.Val355Ile)

gnomAD frequency: 0.00002  dbSNP: rs186192284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001800003 SCV002044067 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV005038329 SCV005666139 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-03-07 criteria provided, single submitter clinical testing

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