ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)

gnomAD frequency: 0.00313  dbSNP: rs116343381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174774 SCV000226140 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650287 SCV000772127 benign Nephronophthisis 15 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708073 SCV005232251 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003927599 SCV004737442 benign CEP164-related disorder 2019-03-26 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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