ClinVar Miner

Submissions for variant NM_002905.5(RDH5):c.569+47C>A

gnomAD frequency: 0.15450  dbSNP: rs3138141
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717747 SCV001945734 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794509 SCV002033486 benign Pigmentary retinal dystrophy 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717747 SCV005232543 benign not provided criteria provided, single submitter not provided

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