ClinVar Miner

Submissions for variant NM_001822.7(CHN1):c.661T>C (p.Tyr221His) (rs1553475005)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux RCV000677620 SCV000803654 pathogenic Duane retraction syndrome 2 2017-04-10 criteria provided, single submitter clinical testing The p.(Tyr221His) variant in CHN1 has never been reported, and was absent frome large population studies. It is considered as pathogenic according to ACMG classification. Additionally, segregation analysis is consistent with the phenotype.
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281600 SCV001468925 likely pathogenic not provided criteria provided, single submitter clinical testing

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