Submissions for variant NM_003849.4(SUCLG1):c.*207A>G

gnomAD frequency: 0.00784  dbSNP: rs73942653

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000306129	SCV000432126	benign	Mitochondrial DNA depletion syndrome 9	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000342280	SCV000432127	likely benign	Mitochondrial DNA depletion syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001590986	SCV001825231	likely benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001590986	SCV005257626	likely benign	not provided		criteria provided, single submitter	not provided