ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.567G>A (p.Pro189=)

gnomAD frequency: 0.01025  dbSNP: rs144842183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388450 SCV000437592 likely benign Congenital nuclear cataract 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000865077 SCV001005982 benign Cataract 22 multiple types 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV002472992 SCV002769979 benign not provided 2022-02-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002472992 SCV004154758 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CRYBB3: BP4, BP7, BS2

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