ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1340-20A>C

gnomAD frequency: 0.01061  dbSNP: rs9515217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589715 SCV001814300 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589715 SCV005218314 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001589715 SCV002035966 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796914 SCV002037992 benign not specified no assertion criteria provided clinical testing

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