ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1038C>G (p.Ser346=) (rs1041949)

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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 RCV000162943 SCV000213430 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118311 SCV000309984 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368680 SCV000457022 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274141 SCV000457023 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319420 SCV000457024 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756624 SCV000884494 benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118311 SCV000152686 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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