ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.543C>T (p.Asp181=) (rs199809975)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082193 SCV000563762 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561330 SCV000675072 likely benign Hereditary cancer-predisposing syndrome 2016-08-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000841202 SCV000983160 likely benign not provided 2018-03-26 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000841202 SCV001147170 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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