ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)

dbSNP: rs386799737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197860 SCV000252841 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242670 SCV000313070 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000197860 SCV002719399 benign Primary ciliary dyskinesia 2022-05-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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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