ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.51G>A (p.Ser17=)

gnomAD frequency: 0.00063  dbSNP: rs141650385
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Total submissions: 3
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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 RCV000221931 SCV000268851 benign not specified 2016-03-16 criteria provided, single submitter clinical testing p.Ser17Ser in exon 2 of CCDC40: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (33/8674) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs141650385).
Invitae RCV000863349 SCV001003996 benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000863349 SCV002641967 benign Primary ciliary dyskinesia 2018-03-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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