ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*922C>T

dbSNP: rs886047164
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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 RCV000259661 SCV000364419 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317256 SCV000364420 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388112 SCV000364421 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295659 SCV000364422 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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