ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.313-10dup

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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 RCV003615641 SCV004559571 likely benign Diamond-Blackfan anemia 10 2023-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919363 SCV004730098 likely benign RPS26-related disorder 2020-07-28 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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