ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) (rs121918344)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005532 SCV000025714 pathogenic Achromatopsia 3 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000005532 SCV000086983 pathologic Achromatopsia 3 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Institute for Ophthalmic Research,University Tuebingen RCV000005532 SCV000575810 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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