ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.700C>T (p.Leu234=) (rs201728852)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568441 SCV000675073 likely benign Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000279182 SCV000351415 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317866 SCV000351416 likely benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000633984 SCV000755257 likely benign Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2017-11-16 criteria provided, single submitter clinical testing

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