ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*1960G>A

gnomAD frequency: 0.00001  dbSNP: rs886047172
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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 RCV000261833 SCV000364559 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312295 SCV000364560 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366963 SCV000364561 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277080 SCV000364562 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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