ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.-38G>A (rs112556972)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287178 SCV000482980 benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325790 SCV000482981 benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382819 SCV000482982 benign Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290768 SCV000482983 benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325790 SCV000482984 benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406625 SCV000482985 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000662850 SCV000785717 benign Paragangliomas 3 2017-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000114 SCV001156544 benign not specified 2019-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101380 SCV001257984 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001523188 SCV001732859 benign Gastrointestinal stromal tumor; Paragangliomas 3 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001653768 SCV001871661 benign not provided 2015-04-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17468193, 23342407, 12807974)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.