ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2832+313A>G

gnomAD frequency: 0.25232  dbSNP: rs7210679
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572752 SCV001894059 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572752 SCV005255767 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529577 SCV001743243 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572752 SCV001797607 likely benign not provided no assertion criteria provided clinical testing

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