ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1029-22dup (rs559579130)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246423 SCV000302789 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377255 SCV000469245 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280590 SCV000469246 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337937 SCV000469247 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000839252 SCV000981143 benign not provided 2018-04-02 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.

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