ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.18C>A (p.Ala6=) (rs2746462)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037717 SCV000061379 benign not specified 2011-10-06 criteria provided, single submitter clinical testing This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs2746462, MAF >1%).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037717 SCV000111937 benign not specified 2015-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162442 SCV000212792 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037717 SCV000309327 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262815 SCV000351449 benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329603 SCV000351450 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755381 SCV000605076 benign not provided 2017-05-23 criteria provided, single submitter clinical testing
IntelligeneCG RCV000262815 SCV000611713 benign Paraganglioma and gastric stromal sarcoma 2017-08-18 criteria provided, single submitter clinical testing

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