ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg)

gnomAD frequency: 0.00596  dbSNP: rs74667361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227925 SCV000287022 benign Primary ciliary dyskinesia 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251345 SCV000307585 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251345 SCV000859020 benign not specified 2018-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001711629 SCV001945866 benign not provided 2021-01-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24450482)
Ambry Genetics RCV000227925 SCV002681059 benign Primary ciliary dyskinesia 2015-08-17 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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