ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) (rs146582871)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725297 SCV000335762 uncertain significance not provided 2015-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000269527 SCV000594993 likely benign not specified 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV001085856 SCV000755322 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000725297 SCV000982023 likely benign not provided 2017-01-26 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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