ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2892C>T (p.Pro964=)

dbSNP: rs769500366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456634 SCV001660420 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276741 SCV002566357 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing

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