Submissions for variant NM_207346.3(TSEN54):c.624-9G>A

gnomAD frequency: 0.01485  dbSNP: rs138719855

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147789	SCV000195260	likely benign	not specified	2013-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265721	SCV000406458	benign	Pontoneocerebellar hypoplasia	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.
Athena Diagnostics Inc	RCV000147789	SCV000615935	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV001511959	SCV001719285	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001511959	SCV001940420	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001511959	SCV001918885	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147789	SCV001975002	benign	not specified		no assertion criteria provided	clinical testing