Submissions for variant NM_017827.4(SARS2):c.1160+4T>C

gnomAD frequency: 0.73282  dbSNP: rs7508411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000345611	SCV000413126	benign	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	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.
GeneDx	RCV000676529	SCV001833942	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000345611	SCV002033079	benign	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV000676529	SCV002347716	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676529	SCV000802314	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing