ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)

gnomAD frequency: 0.00210  dbSNP: rs35068710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000922230 SCV000526017 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000922230 SCV001067655 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000922230 SCV001151561 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932626 SCV004749855 benign RTTN-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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