ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.9987C>T (p.Ser3329=)

gnomAD frequency: 0.00235  dbSNP: rs150857304
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
Invitae RCV000475718 SCV000558096 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884558 SCV004699175 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing DNAH8: BP4, BP7

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