ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2832+349A>G

gnomAD frequency: 0.01506  dbSNP: rs371158080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203114 SCV000257842 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
GeneDx RCV001711608 SCV001946447 benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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