ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) (rs573894071)

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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 RCV000825824 SCV000967295 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Lys580Lys in exon 16 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.11% (13/11524 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs573894071).
GeneDx RCV001563356 SCV001786283 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21704276)

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