Submissions for variant NM_025265.4(TSEN2):c.272-4C>G

gnomAD frequency: 0.00369  dbSNP: rs41293385

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147750	SCV000195216	likely benign	not specified	2013-12-06	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224950	SCV000281087	likely benign	not provided	2016-04-22	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000401443	SCV000440555	likely benign	Pontoneocerebellar hypoplasia	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224950	SCV001111668	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224950	SCV001371673	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TSEN2: BP4, BS2
GeneDx	RCV000224950	SCV001940419	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing