ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.*1278C>T

gnomAD frequency: 0.44347  dbSNP: rs4148943
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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 RCV000332720 SCV000364483 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389635 SCV000364484 benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292986 SCV000364485 benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350226 SCV000364486 benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718289 SCV005321874 benign not provided criteria provided, single submitter not provided

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