ClinVar Miner

Submissions for variant NM_000496.3(CRYBB2):c.449+9G>A

gnomAD frequency: 0.71163  dbSNP: rs4049505
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250633 SCV000304539 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520887 SCV001730100 benign Cataract 3 multiple types 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520887 SCV001876342 benign Cataract 3 multiple types 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712194 SCV005278528 benign not provided criteria provided, single submitter not provided

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