ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.918+1G>T (rs111033245)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036512 SCV000060167 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000667963 SCV000792495 likely pathogenic Pendred syndrome 2017-06-26 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV000667963 SCV001571755 pathogenic Pendred syndrome 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PS1_Strong, PM2_Moderate, PP4_Supporting

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