ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.173-7del

dbSNP: rs11326739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455367 SCV000538758 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000948870 SCV001095096 benign Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001597137 SCV001830223 benign not provided 2021-05-04 criteria provided, single submitter clinical testing

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