ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.-51-7G>C

gnomAD frequency: 0.02415  dbSNP: rs4920100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039328 SCV000063012 benign not specified 2011-11-01 criteria provided, single submitter clinical testing -51-7G>C in intron 1 of TMPRSS3: This variant is not expected to have clinical s ignificance because it does not predict divergence from the splicing consensus s equence and has been identified in 1.7% (22/1294) of chromosomes from a broad po pulation (dbSNP rs4920100).
Illumina Laboratory Services, Illumina RCV000347542 SCV000436183 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 RCV001596947 SCV001830598 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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