ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)

dbSNP: rs2052560214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001250802 SCV001426285 likely pathogenic Autosomal recessive nonsyndromic hearing loss 8 2020-03-31 criteria provided, single submitter clinical testing

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