ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) (rs121918537)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000009308 SCV000086939 pathologic Cone dystrophy 4 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000009308 SCV000029526 pathogenic Cone dystrophy 4 2019-03-15 no assertion criteria provided literature only
OMIM RCV000761206 SCV000891122 pathogenic Achromatopsia 5 2019-03-15 no assertion criteria provided literature only

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