ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*4821G>A

gnomAD frequency: 0.00003  dbSNP: rs886047184
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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 RCV000325838 SCV000364795 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382720 SCV000364796 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295439 SCV000364797 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352682 SCV000364798 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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