ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.-20-13T>C

gnomAD frequency: 0.60613  dbSNP: rs2269672
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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 RCV000340029 SCV000437580 benign Congenital nuclear cataract 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000836664 SCV000978510 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001660712 SCV001876344 benign Cataract 22 multiple types 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836664 SCV005278517 benign not provided criteria provided, single submitter not provided

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