ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)

gnomAD frequency: 0.00001  dbSNP: rs764446899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872276 SCV001014067 likely benign Primary ciliary dyskinesia 2024-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705837 SCV005226338 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000872276 SCV001458373 uncertain significance Primary ciliary dyskinesia 2020-02-13 no assertion criteria provided clinical testing

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