ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*4533C>T

gnomAD frequency: 0.44450  dbSNP: rs730720
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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 RCV000370815 SCV000364767 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273915 SCV000364768 benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331224 SCV000364769 benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355694 SCV000364770 benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718304 SCV005321890 benign not provided criteria provided, single submitter not provided

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