ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10485G>A (p.Val3495=)

gnomAD frequency: 0.00003  dbSNP: rs771238763
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251337 SCV000307416 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535868 SCV000624074 likely benign Primary ciliary dyskinesia 2021-06-08 criteria provided, single submitter clinical testing

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