ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) (rs111033292)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039335 SCV000063019 benign not specified 2012-08-29 criteria provided, single submitter clinical testing Tyr376Tyr in exon 11 of TMPRSS3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.6% (27/4427) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs111033292).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727480 SCV000708921 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000727480 SCV000717969 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11907649, 11424922)
Invitae RCV000727480 SCV001117951 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142460 SCV001302901 uncertain significance Deafness, autosomal recessive 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Human Genetics - Radboudumc,Radboudumc RCV000039335 SCV001952179 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000727480 SCV001973701 likely benign not provided no assertion criteria provided clinical testing

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