ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2032-9T>A

gnomAD frequency: 0.00375  dbSNP: rs144913625
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Total submissions: 3
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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 RCV000514144 SCV000610932 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing
Invitae RCV000514144 SCV001721117 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496987 SCV002812462 likely benign Glaucoma, primary closed-angle; Knobloch syndrome 1 2021-10-14 criteria provided, single submitter clinical testing

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