ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.642+17T>C

gnomAD frequency: 0.00016  dbSNP: rs200597595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409287 SCV000488902 likely benign Paragangliomas 4 2016-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001571908 SCV001796465 likely benign not provided 2020-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30877234)
Labcorp Genetics (formerly Invitae), Labcorp RCV002058845 SCV002434785 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-01-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268039 SCV002552534 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022151 SCV004944677 likely benign Hereditary cancer-predisposing syndrome 2023-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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