ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=)

gnomAD frequency: 0.00014  dbSNP: rs147181936
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Total submissions: 4
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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 RCV000155440 SCV000205130 likely benign not specified 2015-09-08 criteria provided, single submitter clinical testing p.Tyr263Tyr in Exon 9A of TMPRSS3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 27/118642 chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147181936).
Illumina Laboratory Services, Illumina RCV001137712 SCV001297685 uncertain significance Autosomal recessive nonsyndromic hearing loss 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.
GeneDx RCV001567613 SCV001791332 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11907649)
Labcorp Genetics (formerly Invitae), Labcorp RCV001567613 SCV002337271 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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