Submissions for variant NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)

gnomAD frequency: 0.00473  dbSNP: rs34211419

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174560	SCV000225880	benign	not specified	2014-12-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375300	SCV000373724	likely benign	Autosomal recessive osteopetrosis 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000959920	SCV001106861	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000375300	SCV001736758	benign	Autosomal recessive osteopetrosis 1	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375300	SCV001806162	benign	Autosomal recessive osteopetrosis 1	2021-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000959920	SCV002497145	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TCIRG1: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000375300	SCV002796291	likely benign	Autosomal recessive osteopetrosis 1	2022-01-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000375300	SCV001456351	benign	Autosomal recessive osteopetrosis 1	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000959920	SCV001977898	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000959920	SCV001980626	likely benign	not provided		no assertion criteria provided	clinical testing