ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys)

gnomAD frequency: 0.00276  dbSNP: rs148465057
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878313 SCV001021196 benign Joubert syndrome 25 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310831 SCV001500786 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CEP104: BP4, BS2
GeneDx RCV001310831 SCV001936331 likely benign not provided 2019-10-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001310831 SCV001741454 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001310831 SCV001799967 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001310831 SCV001974605 likely benign not provided no assertion criteria provided clinical testing

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