ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.828C>T (p.Arg276=)

gnomAD frequency: 0.00397  dbSNP: rs140547825
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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 RCV000393600 SCV000364307 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301330 SCV000364308 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356106 SCV000364309 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261306 SCV000364310 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000301330 SCV001028239 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2024-01-29 criteria provided, single submitter clinical testing

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