ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.279+20A>T

gnomAD frequency: 0.01095  dbSNP: rs79359215
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515016 SCV000609585 benign not provided 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV000515016 SCV001716929 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000515016 SCV001802314 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000515016 SCV002036515 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796747 SCV002038040 benign not specified no assertion criteria provided clinical testing

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