ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) (rs1205712508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666340 SCV000790616 likely pathogenic Pendred syndrome 2017-04-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666340 SCV001163090 likely pathogenic Pendred syndrome criteria provided, single submitter clinical testing

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