ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=) (rs397516415)

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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 RCV000036435 SCV000060090 likely benign not specified 2012-06-15 criteria provided, single submitter clinical testing Ile433Ile in exon 11 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Invitae RCV001440530 SCV001643440 likely benign not provided 2020-11-15 criteria provided, single submitter clinical testing

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