ClinVar Miner

Submissions for variant NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)

dbSNP: rs1114167432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine, University of Pavia RCV000490649 SCV004022107 uncertain significance Cataract 17 multiple types 2023-07-28 criteria provided, single submitter research
OMIM RCV000490649 SCV000579331 pathogenic Cataract 17 multiple types 2017-06-05 no assertion criteria provided literature only

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