ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) (rs121908365)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005105 SCV000791203 likely pathogenic Pendred syndrome 2017-05-03 criteria provided, single submitter clinical testing
OMIM RCV000005105 SCV000025281 pathogenic Pendred syndrome 2003-06-01 no assertion criteria provided literature only
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004622 SCV000994866 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only in vitro experiment

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