ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.174C>T (p.Thr58=)

gnomAD frequency: 0.00002  dbSNP: rs752803659
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 RCV001274349 SCV001624478 likely benign Primary ciliary dyskinesia 2024-04-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274349 SCV001458360 likely benign Primary ciliary dyskinesia 2020-04-13 no assertion criteria provided clinical testing

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