ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.120G>A (p.Arg40=) (rs36097930)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000759342 SCV000287793 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248539 SCV000309336 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259221 SCV000350264 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000248539 SCV000602174 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561133 SCV000664668 likely benign Hereditary cancer-predisposing syndrome 2015-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000248539 SCV000724432 likely benign not specified 2017-11-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759342 SCV000888618 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing

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