ClinVar Miner

Submissions for variant NM_023936.2(MRPS34):c.498C>T (p.Tyr166=)

dbSNP: rs115992643
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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 RCV002087266 SCV002330688 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941275 SCV004753507 likely benign MRPS34-related disorder 2019-04-09 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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