ClinVar Miner

Submissions for variant NM_033124.5(CCDC65):c.1134G>A (p.Gly378=)

gnomAD frequency: 0.00510  dbSNP: rs116473422
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 RCV000545795 SCV000654648 benign Primary ciliary dyskinesia 27 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000545795 SCV002794838 likely benign Primary ciliary dyskinesia 27 2022-04-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708947 SCV005235710 benign not provided criteria provided, single submitter not provided

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