ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) (rs786204581)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000625825 SCV000924204 pathogenic Enlarged vestibular aqueduct criteria provided, single submitter research
Counsyl RCV000169324 SCV000220657 likely pathogenic Pendred syndrome 2014-08-28 criteria provided, single submitter literature only
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000625825 SCV000902380 pathogenic Enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625825 SCV000746386 pathogenic Enlarged vestibular aqueduct 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000169324 SCV000746470 likely pathogenic Pendred syndrome 2017-12-03 criteria provided, single submitter clinical testing

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