ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser)

gnomAD frequency: 0.00001  dbSNP: rs945234297
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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 RCV001232295 SCV001404845 likely benign not provided 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001232295 SCV001996752 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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