ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*887A>G

gnomAD frequency: 0.00008  dbSNP: rs555113303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357882 SCV000364415 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265466 SCV000364416 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318329 SCV000364417 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375236 SCV000364418 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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