ClinVar Miner

Submissions for variant NM_000987.5(RPL26):c.105C>G (p.Ser35=)

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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 RCV002932700 SCV003260390 likely benign Diamond-Blackfan anemia 2022-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898602 SCV004708332 likely benign RPL26-related disorder 2021-04-18 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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