ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1170C>T (p.Phe390=) (rs35277230)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163257 SCV000213785 benign Hereditary cancer-predisposing syndrome 2014-12-10 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
PreventionGenetics,PreventionGenetics RCV000118312 SCV000309986 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379943 SCV000457028 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285173 SCV000457029 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321449 SCV000457030 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118312 SCV000514596 benign not specified 2015-10-28 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 RCV000470511 SCV000563677 benign Mitochondrial complex II deficiency; Paragangliomas 5 2017-08-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118312 SCV000152687 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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