ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys)

gnomAD frequency: 0.00008  dbSNP: rs149875085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224764 SCV000281365 likely benign not provided 2015-12-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087832 SCV001098540 benign Nephronophthisis 15 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929931 SCV004740109 benign CEP164-related disorder 2020-12-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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