Submissions for variant NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)

gnomAD frequency: 0.00262  dbSNP: rs115993270

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000394743	SCV000339812	benign	not specified	2016-03-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407087	SCV000473960	benign	Idiopathic basal ganglia calcification 1	2018-01-13	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000407087	SCV000744963	likely benign	Idiopathic basal ganglia calcification 1	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000860753	SCV001000897	benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000860753	SCV001769421	likely benign	not provided	2022-01-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000407087	SCV000745763	likely benign	Idiopathic basal ganglia calcification 1	2015-09-29	no assertion criteria provided	clinical testing