ClinVar Miner

Submissions for variant NM_020191.4(MRPS22):c.27G>C (p.Leu9Phe)

gnomAD frequency: 0.00049  dbSNP: rs148997212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886483 SCV001029992 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000886483 SCV001791873 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930671 SCV004740162 likely benign MRPS22-related disorder 2019-09-26 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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