ClinVar Miner

Submissions for variant NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile) (rs151266052)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563852 SCV000664505 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Other data supporting benign classification
GeneDx RCV000602065 SCV000714403 likely benign not specified 2017-09-12 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.
Invitae RCV000232220 SCV000288114 likely benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-05 criteria provided, single submitter clinical testing
OMIM RCV000032785 SCV000056549 pathogenic Mitochondrial complex II deficiency 2012-09-01 no assertion criteria provided literature only

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