ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del)

dbSNP: rs371849586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514569 SCV000610867 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514569 SCV001028784 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821446 SCV002067895 likely benign not specified 2019-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496986 SCV002795515 likely benign Glaucoma, primary closed-angle; Knobloch syndrome 1 2021-11-05 criteria provided, single submitter clinical testing

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