ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1149+1del

dbSNP: rs1060499807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Research Laboratory, Bethlehem University RCV000454360 SCV000538119 pathogenic Pendred syndrome 2016-06-04 no assertion criteria provided research severe to profound w/endolymphatic sac

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