ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.21C>T (p.Leu7=) (rs147815442)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162462 SCV000212820 likely benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000614565 SCV000724260 likely benign not specified 2018-01-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000298176 SCV000351447 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355406 SCV000351448 likely benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232093 SCV000287765 likely benign Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-01-07 criteria provided, single submitter clinical testing

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