ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=)

dbSNP: rs397516426
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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 RCV000036469 SCV000060124 likely benign not specified 2011-07-28 criteria provided, single submitter clinical testing Arg677Arg in exon 17 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 n ear a splice junction.
Invitae RCV002054589 SCV002335333 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing

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