ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1953C>T (p.Asp651=)

gnomAD frequency: 0.00015  dbSNP: rs187512647
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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 RCV001427805 SCV001630491 likely benign Joubert syndrome 25 2024-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908627 SCV004718212 likely benign CEP104-related disorder 2019-06-17 no assertion criteria provided 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).

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