ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1433-8dup

dbSNP: rs769594966
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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 RCV002136909 SCV002402424 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543829 SCV004782896 likely benign SDHA-related disorder 2019-09-04 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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