ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg)

gnomAD frequency: 0.00323  dbSNP: rs199836125
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516334 SCV000612880 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516584 SCV001724882 benign not provided 2025-02-02 criteria provided, single submitter clinical testing

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