ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*2391C>T

gnomAD frequency: 0.00817  dbSNP: rs116391584
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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 RCV000293174 SCV000364591 likely benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350467 SCV000364592 likely benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390597 SCV000364593 likely benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296566 SCV000364594 likely benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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