ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.843C>T (p.Ala281=)

gnomAD frequency: 0.00046  dbSNP: rs150027992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560023 SCV001782354 likely benign not provided 2020-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570726 SCV003320593 likely benign Joubert syndrome 25 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956249 SCV004775202 likely benign CEP104-related disorder 2019-07-12 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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