ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.532-12_532-10del

dbSNP: rs760236068
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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 RCV001397471 SCV001599219 likely benign Mitochondrial DNA depletion syndrome 9 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757425 SCV005351086 likely benign SUCLG1-related disorder 2024-03-13 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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