ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.578C>T (rs111033348)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005101 SCV000799426 likely pathogenic Pendred syndrome 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000036499 SCV000894402 pathogenic Enlarged vestibular aqueduct; Pendred syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000005101 SCV000025277 pathogenic Pendred syndrome 2000-06-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824763 SCV000060154 pathogenic Rare genetic deafness 2007-05-18 no assertion criteria provided clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770869 SCV000902381 likely pathogenic Enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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