ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)

dbSNP: rs2128460324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136689 SCV003823243 pathogenic Primary ciliary dyskinesia 7 2022-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003136689 SCV005666832 likely pathogenic Primary ciliary dyskinesia 7 2024-04-06 criteria provided, single submitter clinical testing

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