ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.1221A>G (p.Glu407=)

gnomAD frequency: 0.00081  dbSNP: rs112327299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501038 SCV000596866 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727506 SCV000709263 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727506 SCV001034396 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000727506 SCV001791397 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing

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