ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*3022A>T

gnomAD frequency: 0.00033  dbSNP: rs145507314
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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 RCV000312687 SCV000364623 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369700 SCV000364624 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277529 SCV000364625 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325612 SCV000364626 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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