ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.16230A>G

dbSNP: rs2853514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV005225559 SCV005870935 benign MERRF syndrome 2025-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity. GnomAD 4.1.0 frequency 0.02523 homoplsmic/2 heteroplasmic
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV002037091 SCV002107185 uncertain significance Mitochondrial inheritance no assertion criteria provided research

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