ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.113A>T (p.Asp38Val) (rs34635677)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210535 SCV000266806 benign Mitochondrial complex II deficiency; Paragangliomas 5 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245657 SCV000309985 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387287 SCV000456971 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295347 SCV000456972 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352522 SCV000456973 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567706 SCV000664460 benign Hereditary cancer-predisposing syndrome 2014-11-19 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),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757746 SCV000886086 benign not provided 2017-09-20 criteria provided, single submitter clinical testing

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