ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1029-7C>T

gnomAD frequency: 0.01279  dbSNP: rs78280303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251144 SCV000302790 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251144 SCV000515968 benign not specified 2015-03-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000634042 SCV000755320 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487115 SCV002800250 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-07-27 criteria provided, single submitter clinical testing

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