ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1179-38T>C

gnomAD frequency: 0.05147  dbSNP: rs3735969
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249378 SCV000313306 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543742 SCV001762590 benign Achromatopsia 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001725152 SCV001960175 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725152 SCV005271412 benign not provided criteria provided, single submitter not provided

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