ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1664-8G>A (rs199790689)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118313 SCV000514597 benign not specified 2016-02-22 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.
Genetic Services Laboratory, University of Chicago RCV000118313 SCV000152688 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.
Illumina Clinical Services Laboratory,Illumina RCV000396767 SCV000457037 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312438 SCV000457038 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367152 SCV000457039 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205034 SCV000261871 benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-25 criteria provided, single submitter clinical testing

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