ClinVar Miner

Submissions for variant GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000787291 SCV000926227 uncertain significance Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape 2019-04-04 no assertion criteria provided clinical testing

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