ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.622_628del (p.His208fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV003158019 SCV003852625 pathogenic Papillon-Lefèvre syndrome 2023-01-02 criteria provided, single submitter clinical testing

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