ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4640+16G>A

gnomAD frequency: 0.14797  dbSNP: rs2275842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243753 SCV000308125 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511539 SCV001718808 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511539 SCV001943434 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000243753 SCV001740507 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243753 SCV001964710 benign not specified no assertion criteria provided clinical testing

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