ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.1293C>T (p.Thr431=)

gnomAD frequency: 0.00010  dbSNP: rs371808747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000934563 SCV001080286 benign Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392701 SCV004131252 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CTSC: BP4, BP7

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