ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1948C>T (p.Pro650Ser)

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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 RCV002612962 SCV002958080 benign not provided 2022-08-26 criteria provided, single submitter clinical testing
GeneDx RCV002612962 SCV005369229 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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