ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.372C>A (p.Leu124=)

dbSNP: rs766007157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020985 SCV001182542 likely benign Hereditary cancer-predisposing syndrome 2019-08-08 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.
Invitae RCV001450268 SCV001653870 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000936784 SCV001990264 uncertain significance not provided 2023-04-17 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 RCV004003284 SCV004814415 likely benign Hereditary pheochromocytoma-paraganglioma 2023-02-15 criteria provided, single submitter clinical testing

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