ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.*822T>C (rs201472512)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000356547 SCV000367366 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156151 SCV000205866 uncertain significance not specified 2013-10-14 criteria provided, single submitter clinical testing The *822T>C variant in SDHD has not been previously reported in individuals with pheochromocytomas or paragangliomas. Data from large population studies is insu fficient to estimate its frequency, though it has been listed in dbSNP without f requency information (rs201472512). This variant is located in the 3' untranslat ed region (3' UTR). While this region may contain important regulatory sequences , no pathogenic variants in the SDHD gene have been reported in this region. Add itional information is needed to fully assess the clinical significance of this variant.

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