ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu)

gnomAD frequency: 0.00004  dbSNP: rs139672999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530281 SCV000630788 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2019-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001580509 SCV001817742 likely benign not provided 2020-11-16 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

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