ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)

gnomAD frequency: 0.00008  dbSNP: rs139821753
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545172 SCV000624315 benign Primary ciliary dyskinesia 2023-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000545172 SCV001452454 uncertain significance Primary ciliary dyskinesia 2020-01-17 no assertion criteria provided clinical testing

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