ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)

gnomAD frequency: 0.00649  dbSNP: rs62000409
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226680 SCV000290396 benign Primary ciliary dyskinesia 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000254412 SCV000313058 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124880 SCV001283885 benign Primary ciliary dyskinesia 15 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV000226680 SCV002691203 benign Primary ciliary dyskinesia 2016-10-19 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001124880 SCV004562186 likely benign Primary ciliary dyskinesia 15 2023-09-21 criteria provided, single submitter clinical testing

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