ClinVar Miner

Submissions for variant NM_000496.3(CRYBB2):c.470C>T (p.Pro157Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287290 SCV002577555 pathogenic Cataract 3 multiple types 2022-01-31 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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