ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.465C>G (p.Gly155=)

gnomAD frequency: 0.00009  dbSNP: rs139803630
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603152 SCV000717786 likely benign not specified 2017-03-29 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.
CeGaT Center for Human Genetics Tuebingen RCV000877253 SCV001247622 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063099 SCV002493526 likely benign Aniridia 1; Irido-corneo-trabecular dysgenesis 2023-08-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000877253 SCV002036806 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000877253 SCV002038241 likely benign not provided no assertion criteria provided clinical testing

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