ClinVar Miner

Submissions for variant NM_000557.5(GDF5):c.-30C>A

gnomAD frequency: 0.00016  dbSNP: rs375024998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329656 SCV000433718 uncertain significance Brachydactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386464 SCV000433719 uncertain significance Chondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262090 SCV000433720 uncertain significance Acromesomelic dysplasia 2B 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319607 SCV000433721 uncertain significance Acromesomelic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371869 SCV000433722 uncertain significance Symphalangism-brachydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing

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