ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-11514G>A

gnomAD frequency: 0.00013  dbSNP: rs780737161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754486 SCV001985921 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene
PreventionGenetics, part of Exact Sciences RCV004741064 SCV005349547 likely benign COL18A1-related disorder 2024-09-16 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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