ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11715C>T (p.Ile3905=)

dbSNP: rs2126606748
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002171308 SCV002428414 likely benign Primary ciliary dyskinesia 2022-11-05 criteria provided, single submitter clinical testing

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