ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) (rs550153707)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV001004793 SCV001164279 likely pathogenic Deafness, autosomal recessive 53 2018-05-07 criteria provided, single submitter research Recessive, compound heterozygous with NM_080680.2:[c.967insC]; congenital, moderate-severe high tone NSHL

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