Submissions for variant NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)

gnomAD frequency: 0.00755  dbSNP: rs75596506

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000323728	SCV000373743	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	RCV000967765	SCV001115183	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001727675	SCV002548398	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000323728	SCV001452922	benign	Autosomal recessive osteopetrosis 1	2020-04-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000967765	SCV001797588	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727675	SCV001972679	benign	not specified		no assertion criteria provided	clinical testing