ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1608C>T (p.Tyr536=) (rs181882513)

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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 RCV000214483 SCV000270850 likely benign not specified 2015-06-03 criteria provided, single submitter clinical testing p.Tyr536Tyr in exon 14 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 2/66574 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs181882513).
Invitae RCV000896071 SCV001040146 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing

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