Submissions for variant NM_001256317.3(TMPRSS3):c.*2G>A

gnomAD frequency: 0.17560  dbSNP: rs13047838

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039326	SCV000063010	benign	not specified	2011-06-03	criteria provided, single submitter	clinical testing	This variant is a high-frequency polymorphism (MAF up to 62%) recorded by dbSNP (rs13047838) in over 20 populations. It is also listed as a clinically-associate d, non-pathogenic variant.
PreventionGenetics, part of Exact Sciences	RCV000039326	SCV000314230	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378269	SCV000436158	benign	Autosomal recessive nonsyndromic hearing loss 8	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001689596	SCV001907392	benign	not provided	2017-05-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000378269	SCV002098546	benign	Autosomal recessive nonsyndromic hearing loss 8	2021-09-10	criteria provided, single submitter	clinical testing