ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)

gnomAD frequency: 0.36709  dbSNP: rs3740129
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000408312 SCV000340184 benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287863 SCV000364319 benign Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342801 SCV000364320 benign Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378701 SCV000364321 benign Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284253 SCV000364322 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000284253 SCV001729009 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651314 SCV001869234 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18513679, 26402641)
Breakthrough Genomics, Breakthrough Genomics RCV001651314 SCV005321869 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000284253 SCV000732964 benign Spondyloepiphyseal dysplasia with congenital joint dislocations no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000284253 SCV000745788 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2015-06-11 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000408312 SCV001956438 benign not specified no assertion criteria provided clinical testing

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