ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=)

gnomAD frequency: 0.00153  dbSNP: rs145235893
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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 RCV000039369 SCV000063053 benign not specified 2014-08-11 criteria provided, single submitter clinical testing Ala311Ala in Exon 09A of TMPRSS3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.6% (25/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (; dbSNP rs145235893).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001667 SCV001159212 benign Autosomal recessive nonsyndromic hearing loss 8 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001572380 SCV001797008 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Invitae RCV001572380 SCV003273044 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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