ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12712G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721786 SCV005327296 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing The variant alters a conserved residue located in the Kozak sequence, which plays a role in the initiation of protein translation. However, in the absence of functional studies, the actual effect of the variant is uncertain; 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 RCV004552781 SCV004761220 likely benign COL18A1-related disorder 2021-02-22 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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