ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.411T>C (p.Ile137=) (rs200203051)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000339184 SCV000469290 uncertain significance Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395319 SCV000469291 uncertain significance Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285362 SCV000469292 uncertain significance Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000615516 SCV000725574 likely benign not specified 2017-11-30 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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