ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1104C>T (p.Thr368=)

gnomAD frequency: 0.00004  dbSNP: rs483352755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086718 SCV001007482 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952538 SCV004778393 likely benign CEP290-related condition 2022-11-02 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).
Richard Lifton Laboratory, Yale University School of Medicine RCV000087240 SCV000120103 unknown not provided flagged submission not provided Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087240 SCV000155207 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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