ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1342-10C>T (rs727503426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151897 SCV000200403 likely benign not specified 2014-03-19 criteria provided, single submitter clinical testing c.1342-10C>T variant in intron 11 of SLC26A4: This variant is not expected to ha ve clinical significance because it does not diverge from the splice site consen sus sequence and computational tools do not predict an impact to splicing.

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