ClinVar Miner

Submissions for variant NM_001886.3(CRYBA4):c.171T>C (p.Phe57=)

gnomAD frequency: 0.88601  dbSNP: rs5761637
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250609 SCV000308512 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834848 SCV000976619 benign not provided 2018-03-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520889 SCV001730102 benign Cataract 23 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520889 SCV001876341 benign Cataract 23 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834848 SCV005273855 benign not provided criteria provided, single submitter not provided

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