ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)

gnomAD frequency: 0.00006  dbSNP: rs774138995
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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 RCV000874997 SCV001017260 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276482 SCV001462861 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004726715 SCV005338041 likely benign CEP290-related disorder 2020-02-17 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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