ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) (rs483352866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital RCV000119776 SCV000154683 not provided Deafness, autosomal recessive 86 no assertion provided not provided
OMIM RCV000144534 SCV000189846 pathogenic Deafness, autosomal dominant 65 2014-07-01 no assertion criteria provided literature only
Division of Medical Genetics; Sainte-Justine Hospital RCV000144534 SCV000211978 pathogenic Deafness, autosomal dominant 65 2014-12-22 no assertion criteria provided literature only

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