ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5622-7C>A

gnomAD frequency: 0.00006  dbSNP: rs727503901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153156 SCV000202623 uncertain significance not provided 2014-02-18 criteria provided, single submitter clinical testing
Invitae RCV001078676 SCV000624143 likely benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952746 SCV004766743 likely benign DNAH11-related condition 2023-12-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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