ClinVar Miner

Submissions for variant NM_001886.3(CRYBA4):c.277T>C (p.Ser93Pro)

dbSNP: rs2145980854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002221291 SCV002103010 likely pathogenic Cataract 23 2021-08-11 criteria provided, single submitter clinical testing PS2, PS4_moderate, PM2, PP3

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