ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.7920G>A (p.Pro2640=)

gnomAD frequency: 0.00001  dbSNP: rs751198406
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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 RCV000555397 SCV000624038 likely benign Primary ciliary dyskinesia 2023-01-09 criteria provided, single submitter clinical testing

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