ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) (rs281865175)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006095 SCV000026277 pathogenic Retinitis pigmentosa 12 2009-02-15 no assertion criteria provided literature only
OMIM RCV000006096 SCV000026278 pathogenic Leber congenital amaurosis 8 2009-02-15 no assertion criteria provided literature only
Retina International RCV000086353 SCV000118499 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003001 SCV001161055 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000006096 SCV001425494 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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