ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) (rs200750564)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415395 SCV000492706 pathogenic Polydactyly; Male infertility; Non-syndromic syndactyly; Hypospadias, penile; Mesoaxial hand polydactyly; Oligospermia 2015-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000438149 SCV000521182 likely pathogenic not provided 2021-03-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22233338, 26046366)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000438149 SCV000706786 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622345 SCV000741446 likely pathogenic Inborn genetic diseases 2020-05-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197466 SCV001368219 pathogenic Synpolydactyly 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in homozygous state.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253289 SCV001428935 pathogenic Brachydactyly-syndactyly syndrome 2017-08-28 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000438149 SCV001447444 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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