ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.316-17dup

gnomAD frequency: 0.00181  dbSNP: rs201980714
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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 RCV001795763 SCV002417445 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795763 SCV002036042 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795763 SCV002038306 likely benign not provided no assertion criteria provided clinical testing

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