ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.288T>C (p.Asn96=)

gnomAD frequency: 0.00004  dbSNP: rs367691481
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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 RCV001489584 SCV001694127 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826323 SCV002094943 likely benign Leber congenital amaurosis 2021-07-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733346 SCV005349430 likely benign CEP290-related disorder 2022-05-23 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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