ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)

gnomAD frequency: 0.00006  dbSNP: rs368842512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864689 SCV001005526 likely benign Primary ciliary dyskinesia 2023-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000864689 SCV002656618 likely benign Primary ciliary dyskinesia 2016-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Revvity Omics, Revvity Omics RCV003145214 SCV003831705 uncertain significance Primary ciliary dyskinesia 7 2022-07-14 criteria provided, single submitter clinical testing

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