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

Minimum review status:		Collection method:
Minimum conflict level:
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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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