ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) (rs397515435)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000033199 SCV000611792 pathogenic Deafness, autosomal recessive 9 2017-07-01 criteria provided, single submitter clinical testing
OMIM RCV000033199 SCV000057045 pathogenic Deafness, autosomal recessive 9 2012-11-01 no assertion criteria provided literature only

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