ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu)

gnomAD frequency: 0.00011  dbSNP: rs371974287
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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 RCV001064726 SCV001229644 benign not provided 2024-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001064726 SCV001795332 uncertain significance not provided 2022-07-11 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 that this variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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