Submissions for variant NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu)

gnomAD frequency: 0.00806  dbSNP: rs35089741

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174755	SCV000226120	benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376815	SCV000373727	benign	Autosomal recessive osteopetrosis 1	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.
Invitae	RCV001511036	SCV001718212	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001511036	SCV001938194	benign	not provided	2020-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277345	SCV002564688	benign	Increased bone mineral density	2022-06-20	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000376815	SCV002094920	benign	Autosomal recessive osteopetrosis 1	2019-12-01	no assertion criteria provided	clinical testing