ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1884G>T (p.Thr628=)

gnomAD frequency: 0.00398  dbSNP: rs12144567
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652586 SCV000774456 benign Joubert syndrome 25 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001692250 SCV001909296 benign not provided 2019-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001692250 SCV004128031 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CEP104: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003928132 SCV004746300 likely benign CEP104-related condition 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796173 SCV002033973 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001692250 SCV002038408 likely benign not provided no assertion criteria provided clinical testing

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