ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586172 SCV005076571 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006448 SCV005631896 likely pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-04-30 criteria provided, single submitter clinical testing

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