ClinVar Miner

Submissions for variant NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser)

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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 RCV004759676 SCV005368498 uncertain significance Late-onset retinal degeneration 2024-05-22 criteria provided, single submitter clinical testing Criteria applied: PM2,PP3

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