ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)

gnomAD frequency: 0.01690  dbSNP: rs61998241
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249651 SCV000313120 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094543 SCV000407176 benign Primary ciliary dyskinesia 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000407695 SCV000558492 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001538191 SCV001755805 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000407695 SCV002686921 benign Primary ciliary dyskinesia 2016-12-22 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 RCV001094543 SCV003800552 benign Primary ciliary dyskinesia 15 2023-11-29 criteria provided, single submitter clinical testing

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