ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1386A>G (p.Leu462=)

gnomAD frequency: 0.00655  dbSNP: rs76234817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539073 SCV000655675 benign Joubert syndrome 25 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001558971 SCV001781019 likely benign not provided 2021-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905461 SCV004726633 benign CEP104-related condition 2019-09-05 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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