ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1363C>T (p.Leu455=)

gnomAD frequency: 0.00657  dbSNP: rs115015364
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 RCV000528918 SCV000655674 benign Joubert syndrome 25 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001555967 SCV001777467 likely benign not provided 2021-08-05 criteria provided, single submitter clinical testing

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