ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs727503426
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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, Mass General Brigham 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.
Invitae RCV002516053 SCV003290101 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing

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