ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2434-8C>T

gnomAD frequency: 0.00004  dbSNP: rs367814420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403656 SCV000436413 uncertain significance Knobloch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520038 SCV003300692 benign not provided 2024-12-24 criteria provided, single submitter clinical testing

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