ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.73-29del

dbSNP: rs745905902
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294090 SCV001482896 uncertain significance Paragangliomas 4 2018-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001452806 SCV001656479 benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001587324 SCV001823608 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12618761)
Sema4, Sema4 RCV002255641 SCV002527090 benign Hereditary cancer-predisposing syndrome 2021-04-22 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465864 SCV002760246 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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