ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.287-7C>G

gnomAD frequency: 0.00001  dbSNP: rs542180633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457416 SCV001661219 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-01-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007068 SCV004828360 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-05-30 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -7 position of intron 3 of the SDHB gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SDHB-related disorders in the literature. This variant has been identified in 3/251058 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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