ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=)

gnomAD frequency: 0.00168  dbSNP: rs148084212
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 RCV000474681 SCV000558087 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496817 SCV002812997 benign Spermatogenic failure 46 2022-02-24 criteria provided, single submitter clinical testing

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