ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1932G>A (p.Val644=) (rs6961)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162483 SCV000212856 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118316 SCV000309998 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303618 SCV000457061 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358445 SCV000457062 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273207 SCV000457063 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756627 SCV000884497 benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118316 SCV000152691 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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