ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.322C>T (p.Leu108=) (rs374545905)

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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 RCV000036490 SCV000060145 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu108Leu in Exon 04 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001505553 SCV001710460 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing

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