ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3320A>T (p.Tyr1107Phe) (rs367913308)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523333 SCV000619381 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001087092 SCV001026542 likely benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing

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