ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*3245G>A

gnomAD frequency: 0.00014  dbSNP: rs545967470
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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 RCV000377835 SCV000364647 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266948 SCV000364648 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324435 SCV000364649 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372109 SCV000364650 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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