ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.4053G>A (p.Thr1351=)

gnomAD frequency: 0.00007  dbSNP: rs373842310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536790 SCV000652472 benign Nephronophthisis 15 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752944 SCV005350809 likely benign CEP164-related disorder 2024-08-28 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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