ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)

gnomAD frequency: 0.00077  dbSNP: rs116313397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536528 SCV000652160 likely benign Joubert syndrome 15 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001584325 SCV001819219 likely benign not provided 2019-04-30 criteria provided, single submitter clinical testing

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