ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388900 SCV004100801 likely pathogenic Vitelliform macular dystrophy 5 2023-10-27 criteria provided, single submitter clinical testing Criteria applied: PS3,PS4_MOD,PM2_SUP

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