ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser)

gnomAD frequency: 0.00031  dbSNP: rs200882049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522118 SCV000620660 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)
Labcorp Genetics (formerly Invitae), Labcorp RCV000522118 SCV002991111 benign not provided 2023-04-14 criteria provided, single submitter clinical testing

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