ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) (rs199875457)

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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 RCV000354909 SCV000335048 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307954 SCV000469132 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362619 SCV000469133 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267903 SCV000469134 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000634045 SCV000755323 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2017-12-06 criteria provided, single submitter clinical testing

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