ClinVar Miner

Submissions for variant NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) (rs751218423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rui Chen Lab,Baylor College of Medicine RCV000210897 SCV000267569 pathogenic Leber congenital amaurosis 2015-04-29 criteria provided, single submitter research
OMIM RCV000210001 SCV000265679 uncertain significance Toriello-Lacassie-Droste syndrome 2016-09-30 no assertion criteria provided literature only

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