ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.677-8C>T

gnomAD frequency: 0.00003  dbSNP: rs762961824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615400 SCV000713814 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing c.677-8C>T in intron 4 of CCDC40: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.12%(4/33486) of Latino chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7629 61824).
Invitae RCV002529359 SCV003283685 likely benign Primary ciliary dyskinesia 2023-10-13 criteria provided, single submitter clinical testing

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