ClinVar Miner

Submissions for variant NM_032322.4(RNF135):c.299A>G (p.His100Arg)

gnomAD frequency: 0.00394  dbSNP: rs368080023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504200 SCV000596785 benign not specified 2019-01-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514211 SCV000609944 likely benign not provided 2017-08-30 criteria provided, single submitter clinical testing
Invitae RCV000514211 SCV001111643 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514211 SCV001817515 likely benign not provided 2019-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514211 SCV002545905 benign not provided 2023-10-01 criteria provided, single submitter clinical testing RNF135: BS1, BS2

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