ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.492C>A (p.Pro164=)

dbSNP: rs139487214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541297 SCV000642007 likely benign Cataract 22 multiple types 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755960 SCV005359512 likely benign CRYBB3-related disorder 2024-09-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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