ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12195G>A

dbSNP: rs62000960
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202786 SCV000258201 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522500 SCV001732060 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517357 SCV003680941 likely benign Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001522500 SCV004146714 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing COL18A1: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001522500 SCV001799926 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001522500 SCV001966310 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004553107 SCV004753103 likely benign COL18A1-related disorder 2022-01-28 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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