ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.417C>T (p.Ala139=)

gnomAD frequency: 0.00564  dbSNP: rs144287889
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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) RCV000177194 SCV000229030 benign not specified 2014-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327879 SCV000364291 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366162 SCV000364292 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274026 SCV000364293 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331444 SCV000364294 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000274026 SCV001027601 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2024-01-29 criteria provided, single submitter clinical testing

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