ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) (rs121908366)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005113 SCV000025290 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2008-08-01 no assertion criteria provided literature only
GeneReviews RCV000005113 SCV000153991 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2014-05-29 no assertion criteria provided literature only

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