ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.458= (p.Ile153=)

gnomAD frequency: 0.12743  dbSNP: rs217086
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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 RCV000534339 SCV000641795 benign Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000616032 SCV000722706 benign not specified 2017-10-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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