ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)

gnomAD frequency: 0.00185  dbSNP: rs35313369
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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 RCV000193358 SCV000248751 uncertain significance not specified 2015-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000889817 SCV000531490 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000889817 SCV001033524 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927806 SCV004746280 likely benign RTTN-related disorder 2019-05-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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