ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.591G>A (p.Arg197=)

gnomAD frequency: 0.00001  dbSNP: rs775975599
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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 RCV001412037 SCV001614109 likely benign Primary ciliary dyskinesia 2020-08-27 criteria provided, single submitter clinical testing

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