ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter)

dbSNP: rs1060499811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Research Laboratory, Bethlehem University RCV000454259 SCV000538129 pathogenic Autosomal recessive nonsyndromic hearing loss 8 2016-06-04 no assertion criteria provided research Severe to Profound

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