ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val)

gnomAD frequency: 0.00002  dbSNP: rs758738833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001824483 SCV002073961 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478070 SCV002788026 uncertain significance Autosomal recessive nonsyndromic hearing loss 8 2022-02-10 criteria provided, single submitter clinical testing

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