ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*1244G>T

gnomAD frequency: 0.00001  dbSNP: rs886047168
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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 RCV000360119 SCV000364475 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267825 SCV000364476 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301909 SCV000364477 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359087 SCV000364478 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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