ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*406G>A

gnomAD frequency: 0.01614  dbSNP: rs80210009
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400785 SCV000364367 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303105 SCV000364368 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357788 SCV000364369 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398733 SCV000364370 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692917 SCV005190837 uncertain significance not provided criteria provided, single submitter not provided

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