ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=)

gnomAD frequency: 0.00001  dbSNP: rs1814290668
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002807230 SCV003195560 likely benign Primary ciliary dyskinesia 19 2022-05-20 criteria provided, single submitter clinical testing

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