ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.-38G>A

gnomAD frequency: 0.01611  dbSNP: rs112556972
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287178 SCV000482980 benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325790 SCV000482981 benign Charcot-Marie-Tooth disease type 4E 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382819 SCV000482982 benign Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290768 SCV000482983 benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325790 SCV000482984 benign Charcot-Marie-Tooth disease type 4E 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, Illumina RCV001101380 SCV001257984 benign Hereditary pheochromocytoma-paraganglioma 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523188 SCV001732859 benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-08 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)
Sema4, Sema4 RCV002256223 SCV002527112 benign Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001000114 SCV002552536 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488835 SCV002799442 benign Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3 2022-05-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000662850 SCV004015423 benign Paragangliomas 3 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653768 SCV005285765 benign not provided criteria provided, single submitter not provided

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