ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*763C>A

gnomAD frequency: 0.66871  dbSNP: rs4148941
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314214 SCV000364391 benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368921 SCV000364392 benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274342 SCV000364393 benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310686 SCV000364394 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000310686 SCV000762130 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718288 SCV005321872 benign not provided criteria provided, single submitter not provided

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