ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.621+16T>C

gnomAD frequency: 0.00011  dbSNP: rs769390635
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613395 SCV000718698 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063187 SCV002439510 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-24 criteria provided, single submitter clinical testing

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