ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3495+14C>G

dbSNP: rs191291169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519174 SCV001727996 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506624 SCV002807967 likely benign Glaucoma, primary closed-angle; Knobloch syndrome 1 2021-10-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699569 SCV001925777 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001519174 SCV001963763 likely benign not provided no assertion criteria provided clinical testing

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