ClinVar Miner

Submissions for variant NM_006891.4(CRYGD):c.448dup (p.Asp150fs)

dbSNP: rs864309701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796097 SCV005416926 likely pathogenic Cataract 4 multiple types criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Supporting+PS4_Supporting+PP4+PM6
Eye Genetics Research Group, Children's Medical Research Institute RCV000203375 SCV000256037 pathogenic Developmental cataract 2015-01-09 no assertion criteria provided research

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