ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)

gnomAD frequency: 0.00202  dbSNP: rs201006742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518504 SCV000612882 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522502 SCV001732062 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001522502 SCV002003565 uncertain significance not provided 2022-04-12 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
PreventionGenetics, part of Exact Sciences RCV004553125 SCV004785326 likely benign COL18A1-related disorder 2020-06-24 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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