ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1485G>A (p.Glu495=) (rs149248727)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000290847 SCV000336558 uncertain significance not provided 2015-11-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341599 SCV000469227 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380054 SCV000469228 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283177 SCV000469229 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290847 SCV001005753 benign not provided 2018-09-27 criteria provided, single submitter clinical testing

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