ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) (rs606231410)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biotechnologie de Sfax,Université de Sfax RCV000148342 SCV000190694 pathogenic Nonsyndromic Deafness 2014-04-01 no assertion criteria provided research
OMIM RCV000202598 SCV000257536 pathogenic Deafness, autosomal recessive 53 2015-01-30 no assertion criteria provided literature only

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