ClinVar Miner

Submissions for variant NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)

dbSNP: rs9333548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258726 SCV002536973 likely benign Xeroderma pigmentosum 2020-09-10 criteria provided, single submitter curation
GeneDx RCV003325597 SCV004031689 uncertain significance not provided 2023-03-01 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003325597 SCV004263331 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960970 SCV004767752 likely benign POLH-related disorder 2020-03-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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