ClinVar Miner

Submissions for variant NR_033294.2(SNORD118):n.105A>G

dbSNP: rs9901637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094926 SCV002386158 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893244 SCV004716100 likely benign TMEM107-related disorder 2024-08-15 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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