ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1399C>T (p.Leu467=)

gnomAD frequency: 0.00006  dbSNP: rs528252533
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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 RCV001512651 SCV001720103 benign Nephronophthisis 15 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001512651 SCV002801035 likely benign Nephronophthisis 15 2021-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753353 SCV005341537 likely benign CEP164-related disorder 2024-09-13 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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