ClinVar Miner

Submissions for variant NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)

gnomAD frequency: 0.00025  dbSNP: rs551163932
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 RCV000868022 SCV001009305 likely benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868022 SCV001455204 uncertain significance Primary ciliary dyskinesia 2020-01-24 no assertion criteria provided clinical testing

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