ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala)

gnomAD frequency: 0.00017  dbSNP: rs56699807
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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 RCV000878300 SCV001021181 benign Nephronophthisis 15 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536792 SCV003711068 likely benign Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004753062 SCV005349078 likely benign CEP164-related disorder 2024-08-14 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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