ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)

gnomAD frequency: 0.00177  dbSNP: rs138868323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952062 SCV001098529 likely benign Nephronophthisis 15 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV003318652 SCV004022927 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV003318652 SCV005412488 uncertain significance not provided 2024-01-30 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003935784 SCV004755086 likely benign CEP164-related disorder 2019-10-25 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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