ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)

gnomAD frequency: 0.00247  dbSNP: rs200098419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965807 SCV001113084 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000965807 SCV001769830 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003905901 SCV004724568 benign COL13A1-related disorder 2020-06-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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