ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2869-11G>A

gnomAD frequency: 0.00009  dbSNP: rs566226316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002135204 SCV002448763 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500245 SCV002805304 likely benign Glaucoma, primary closed-angle; Knobloch syndrome 1 2022-04-11 criteria provided, single submitter clinical testing

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