ClinVar Miner

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

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Total submissions: 9
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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.

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