ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.845G>A (p.Arg282His) (rs121918544)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000005978 SCV000249157 pathogenic Dyskeratosis congenita, autosomal dominant, 3 2015-07-07 criteria provided, single submitter clinical testing
Degerman lab,Umeå University RCV000005978 SCV000611706 pathogenic Dyskeratosis congenita, autosomal dominant, 3 2017-11-23 criteria provided, single submitter clinical testing
OMIM RCV000005978 SCV000026160 pathogenic Dyskeratosis congenita, autosomal dominant, 3 2012-05-01 no assertion criteria provided literature only
OMIM RCV000005979 SCV000026161 pathogenic Revesz syndrome 2012-05-01 no assertion criteria provided literature only

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