ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.1740A>G (p.Arg580=)

gnomAD frequency: 0.00155  dbSNP: rs59759676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192355 SCV000246971 uncertain significance not specified 2014-11-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725738 SCV000339064 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725738 SCV001094476 benign not provided 2025-01-30 criteria provided, single submitter clinical testing

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