ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.891T>C (p.Pro297=) (rs1126417)

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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 RCV000162482 SCV000212855 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118321 SCV000310006 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347829 SCV000457016 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400279 SCV000457017 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308030 SCV000457018 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118321 SCV000540297 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757750 SCV000886090 benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118321 SCV000152696 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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