ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003314767 SCV004012858 pathogenic Amelogenesis imperfecta type 1A 2023-07-12 no assertion criteria provided research

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