ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.644-33C>G

gnomAD frequency: 0.54169  dbSNP: rs1925955
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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 RCV000251467 SCV000303626 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533577 SCV001750241 benign Leber congenital amaurosis 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533578 SCV001750242 benign Retinitis pigmentosa 87 with choroidal involvement 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001610572 SCV001835529 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795394 SCV002033736 benign Retinitis pigmentosa 20 2021-11-07 criteria provided, single submitter clinical testing

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