ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.765+2T>C (rs397516432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036507 SCV000060162 pathogenic Rare genetic deafness 2010-07-15 criteria provided, single submitter clinical testing The 765+2T>C variant in SLC26A4 has not been reported in the literature. However , the 765+2T>C variant is predicted to cause abnormal splicing because the nucle otide substitution occurs in the invariant region of the splice consensus sequen ce. In summary, this variant meets our criteria to be classified as pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508481 SCV000605146 pathogenic not specified 2016-11-23 criteria provided, single submitter clinical testing

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