ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.1251G>C (p.Thr417=)

gnomAD frequency: 0.00072  dbSNP: rs140411224
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401187 SCV000364327 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314473 SCV000364328 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369182 SCV000364329 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274955 SCV000364330 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000369182 SCV001036831 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2023-12-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579950 SCV001809148 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579950 SCV001966992 likely benign not provided no assertion criteria provided clinical testing

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