ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*4421G>C

dbSNP: rs730722
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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 RCV000366549 SCV000364747 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271907 SCV000364748 benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327039 SCV000364749 benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363073 SCV000364750 benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718302 SCV005321888 benign not provided criteria provided, single submitter not provided

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