ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.420A>G (p.Gly140=)

gnomAD frequency: 0.00001  dbSNP: rs794727791
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724433 SCV000231661 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000179415 SCV000524386 likely benign not specified 2016-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088510 SCV000641441 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326977 SCV002630695 likely benign Hereditary cancer-predisposing syndrome 2020-03-02 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.
PreventionGenetics, part of Exact Sciences RCV003907627 SCV004719652 likely benign SDHC-related disorder 2020-06-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003996582 SCV004815703 likely benign Hereditary pheochromocytoma-paraganglioma 2023-08-15 criteria provided, single submitter clinical testing

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