ClinVar Miner

Submissions for variant NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)

dbSNP: rs773682747
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001255162 SCV001431265 likely pathogenic Hearing loss 2019-10-19 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001751522 SCV001994802 pathogenic Hearing loss, autosomal recessive 116 2021-10-28 criteria provided, single submitter clinical testing

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