ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1909-12_1909-11del (rs372662724)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281629 SCV000457055 uncertain significance Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337728 SCV000457056 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394391 SCV000457057 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000483037 SCV000566911 likely benign not specified 2017-12-21 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.
Ambry Genetics RCV000492532 SCV000581184 likely benign Hereditary cancer-predisposing syndrome 2013-12-13 criteria provided, single submitter clinical testing

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