ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys)

gnomAD frequency: 0.00830  dbSNP: rs111626991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542299 SCV000655678 benign Joubert syndrome 25 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001534443 SCV001751374 likely benign not provided 2023-02-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003915636 SCV004736246 benign CEP104-related condition 2019-09-17 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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