ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.-34G>A

gnomAD frequency: 0.05210  dbSNP: rs73372256
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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 RCV000039327 SCV000063011 benign not specified 2011-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386939 SCV000436181 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000843461 SCV000985496 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000843461 SCV005206349 likely benign not provided criteria provided, single submitter not provided

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