ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)

gnomAD frequency: 0.00216  dbSNP: rs62089120
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500770 SCV000596872 uncertain significance not specified 2015-11-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726688 SCV000702105 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000726688 SCV000732066 likely benign not provided 2023-04-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000726688 SCV001111775 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726688 SCV004143265 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing RTTN: BP4
PreventionGenetics, part of Exact Sciences RCV003915392 SCV004732022 likely benign RTTN-related condition 2019-12-17 criteria provided, single submitter 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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