ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*1130C>G

gnomAD frequency: 0.00369  dbSNP: rs4148942
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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 RCV000318256 SCV000364463 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375155 SCV000364464 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278403 SCV000364465 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335862 SCV000364466 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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