ClinVar Miner

Submissions for variant NM_000557.5(GDF5):c.497C>A (p.Pro166His) (rs61754581)

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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 RCV000293151 SCV000433703 benign Fibular hypoplasia and complex brachydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350158 SCV000433704 benign Symphalangism-brachydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391598 SCV000433705 benign Acromesomelic Dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282198 SCV000433706 benign Brachydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334872 SCV000433707 benign Chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing

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