ClinVar Miner

Submissions for variant NM_004076.4(CRYBB3):c.[493G>C];[493G>C]

dbSNP: rs74315490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018457 SCV000038739 pathogenic Cataract 22 multiple types 2005-06-01 no assertion criteria provided literature only
Eye Genetics Research Group, Children's Medical Research Institute RCV000203352 SCV000256019 pathogenic Developmental cataract 2015-01-09 no assertion criteria provided research

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