ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)

gnomAD frequency: 0.04579  dbSNP: rs17670506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245140 SCV000309965 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263766 SCV000437587 likely benign Congenital nuclear cataract 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548899 SCV000642005 benign Cataract 22 multiple types 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001675726 SCV001895695 benign not provided 2018-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27307692)

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