ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.1347C>T (p.Arg449=)

gnomAD frequency: 0.00538  dbSNP: rs200249458
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398456 SCV000335796 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311323 SCV000364331 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365944 SCV000364332 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271319 SCV000364333 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326389 SCV000364334 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000311323 SCV001106815 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2024-01-31 criteria provided, single submitter clinical testing

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