ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.822C>T (p.Gly274=) (rs34771391)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570502 SCV000664458 benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000426962 SCV000518960 benign not specified 2016-03-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000317795 SCV000457010 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372488 SCV000457011 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287211 SCV000457012 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000210510 SCV000266802 benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-13 criteria provided, single submitter clinical testing

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