ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu)

gnomAD frequency: 0.00050  dbSNP: rs139063474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697907 SCV000826541 likely benign Joubert syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957795 SCV004769509 likely benign ARL13B-related condition 2022-11-08 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).

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