ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.339-10dup

dbSNP: rs200792506
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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 RCV000250380 SCV000313315 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287714 SCV000475243 uncertain significance Achromatopsia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344776 SCV000475244 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961892 SCV001108948 benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000287714 SCV001454560 benign Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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