ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*4210T>C

gnomAD frequency: 0.00002  dbSNP: rs559945769
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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 RCV000272458 SCV000364731 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327500 SCV000364732 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382029 SCV000364733 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287614 SCV000364734 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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