ClinVar Miner

Submissions for variant NM_000168.5(GLI3):c.4020C>T (p.Pro1340=) (rs35139358)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284158 SCV000469120 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320488 SCV000469121 likely benign Pallister-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375053 SCV000469122 likely benign Greig cephalopolysyndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527883 SCV000630802 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2017-07-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244659 SCV000302820 benign not specified criteria provided, single submitter clinical testing

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