ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.357G>A (p.Ser119=)

gnomAD frequency: 0.00004  dbSNP: rs1179996142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434690 SCV001637501 likely benign Joubert syndrome 15 2023-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706148 SCV005226755 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003900493 SCV004709575 likely benign CEP41-related disorder 2023-07-26 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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