ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) (rs761357250)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Ophthalmic Research,University Tuebingen RCV000190368 SCV000246110 pathogenic Achromatopsia 7 2015-06-17 criteria provided, single submitter research
OMIM RCV000190368 SCV000243934 pathogenic Achromatopsia 7 2015-07-01 no assertion criteria provided literature only
GeneReviews RCV000190368 SCV000256528 pathogenic Achromatopsia 7 2015-10-29 no assertion criteria provided literature only

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