ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.42C>T (p.Leu14=)

gnomAD frequency: 0.00001  dbSNP: rs1331533952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641925 SCV000763575 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331176 SCV002629715 likely benign Hereditary cancer-predisposing syndrome 2020-08-13 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.
GeneDx RCV003325505 SCV004031712 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV004003950 SCV004827780 likely benign Hereditary pheochromocytoma-paraganglioma 2023-08-15 criteria provided, single submitter clinical testing

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