ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3751+66C>T

gnomAD frequency: 0.02109  dbSNP: rs55843236
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552175 SCV001772822 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703015 SCV001929636 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703015 SCV001955439 benign not specified no assertion criteria provided clinical testing

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