ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly)

gnomAD frequency: 0.00548  dbSNP: rs34533087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000881652 SCV000519916 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Invitae RCV000881652 SCV001024842 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935124 SCV004751144 benign RTTN-related condition 2019-04-12 criteria provided, single submitter 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).
Genetic Services Laboratory, University of Chicago RCV000118206 SCV000152565 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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