ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.412C>G (p.Pro138Ala)

gnomAD frequency: 0.00011  dbSNP: rs763966726
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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 RCV002092174 SCV002325163 benign not provided 2023-06-09 criteria provided, single submitter clinical testing
GeneDx RCV002092174 SCV004170219 uncertain significance not provided 2023-04-14 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

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