ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) (rs146348818)

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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 RCV000151890 SCV000200391 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Met283Ile in Exon 07 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.9% (32/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs146348818).
Counsyl RCV000665447 SCV000789575 likely benign Pendred syndrome 2017-02-14 criteria provided, single submitter clinical testing

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