ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)

gnomAD frequency: 0.00064  dbSNP: rs138948307
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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 RCV000896632 SCV001040737 likely benign not provided 2024-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000896632 SCV001780525 uncertain significance not provided 2021-06-02 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; This variant is associated with the following publications: (PMID: 27535533)

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