ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) (rs1060499790)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Research Laboratory,Bethlehem University RCV000454163 SCV000538085 pathogenic Deafness, autosomal recessive 12 2016-06-04 no assertion criteria provided research congenital, profound

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