ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) (rs34916635)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163315 SCV000213843 benign Hereditary cancer-predisposing syndrome 2015-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Intact protein function observed in appropriate functional assay(s)
Athena Diagnostics Inc RCV000713176 SCV000843759 benign not provided 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000602372 SCV000730537 likely benign not specified 2017-12-08 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.
GenomeConnect, ClinGen RCV000709876 SCV000840213 not provided Gastrointestinal stroma tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000266464 SCV000351429 likely benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323978 SCV000351430 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206839 SCV000261941 benign Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-01-04 criteria provided, single submitter clinical testing

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