ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.2736C>T (p.Gly912=)

gnomAD frequency: 0.00114  dbSNP: rs148360595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878568 SCV001021491 benign Joubert syndrome 25 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001571350 SCV001795804 likely benign not provided 2020-09-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001571350 SCV002034121 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001571350 SCV002038026 likely benign not provided no assertion criteria provided clinical testing

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