ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3162C>T (p.Gly1054=)

gnomAD frequency: 0.00005  dbSNP: rs554127075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430972 SCV001633722 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001552787 SCV001773545 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552787 SCV005227256 likely benign not provided criteria provided, single submitter not provided

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