ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.*6A>G

gnomAD frequency: 0.48798  dbSNP: rs7317982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668069 SCV001891189 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796684 SCV002033479 benign RCBTB1-related retinopathy 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668069 SCV005230307 benign not provided criteria provided, single submitter not provided

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