ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.975A>G (p.Thr325=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963026 SCV002243470 likely benign Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-10-21 criteria provided, single submitter clinical testing

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