ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) (rs1060499791)

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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 RCV000454253 SCV000611799 pathogenic Deafness, autosomal recessive 12 2017-07-01 criteria provided, single submitter clinical testing
Hereditary Research Laboratory,Bethlehem University RCV000454253 SCV000538086 pathogenic Deafness, autosomal recessive 12 2016-06-04 no assertion criteria provided research

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