ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2091C>G (p.Pro697=)

gnomAD frequency: 0.00001  dbSNP: rs762603514
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002203472 SCV002486569 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277040 SCV002567213 uncertain significance Connective tissue disorder 2021-11-04 criteria provided, single submitter clinical testing

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