ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314505 SCV004013944 pathogenic Alstrom syndrome 2022-10-14 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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