ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.312+20C>T

gnomAD frequency: 0.00586  dbSNP: rs111533078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238458 SCV002009957 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077205 SCV002389189 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-08-22 criteria provided, single submitter clinical testing

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