ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.300T>C (p.Ser100=) (rs11541235)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151827 SCV000200296 benign not specified 2013-08-01 criteria provided, single submitter clinical testing Ser100Ser in exon 4 of SDHB: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (31/8600) of European American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; dbSNP rs11541235).
Ambry Genetics RCV000162388 SCV000212701 likely benign Hereditary cancer-predisposing syndrome 2014-09-04 criteria provided, single submitter clinical testing
Invitae RCV000204883 SCV000261948 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364659 SCV000351425 likely benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396922 SCV000351426 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000151827 SCV000724537 likely benign not specified 2017-11-06 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.

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