ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1032G>A (p.Thr344=)

gnomAD frequency: 0.00006  dbSNP: rs367998577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557046 SCV001778742 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001557046 SCV002199852 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237895 SCV005883748 likely benign not specified 2024-12-03 criteria provided, single submitter clinical testing

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