ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10183C>G (p.Gln3395Glu)

gnomAD frequency: 0.00001  dbSNP: rs759904861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267120 SCV001445301 uncertain significance Inborn genetic diseases 2018-08-13 criteria provided, single submitter clinical testing
Invitae RCV003652118 SCV004459127 benign Primary ciliary dyskinesia 2023-12-16 criteria provided, single submitter clinical testing

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