ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*4409C>T

gnomAD frequency: 0.00009  dbSNP: rs754282055
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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 RCV000306223 SCV000364743 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360925 SCV000364744 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394161 SCV000364745 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302636 SCV000364746 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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