ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.353del (p.Pro118fs) (rs797045171)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Ophthalmic Research,University Tuebingen RCV000191036 SCV000246108 pathogenic Achromatopsia 7 2015-06-17 criteria provided, single submitter research

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