Submissions for variant NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=)

gnomAD frequency: 0.97643  dbSNP: rs2471829

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224273	SCV000281358	benign	not provided	2016-01-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455500	SCV000540513	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Eurofins Ntd Llc (ga)	RCV000455500	SCV000705870	benign	not specified	2017-01-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224273	SCV001732377	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273367	SCV001754899	benign	Autosomal recessive osteopetrosis 1	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224273	SCV005319206	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273367	SCV001456350	benign	Autosomal recessive osteopetrosis 1	2020-09-16	no assertion criteria provided	clinical testing