ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro)

dbSNP: rs199700840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000087078 SCV000119892 pathogenic Autosomal recessive nonsyndromic hearing loss 86 2014-01-02 no assertion criteria provided literature only
Division of Medical Genetics; Sainte-Justine Hospital RCV000087078 SCV000211980 pathogenic Autosomal recessive nonsyndromic hearing loss 86 2014-12-22 no assertion criteria provided literature only
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000087078 SCV000249617 pathogenic Autosomal recessive nonsyndromic hearing loss 86 2014-01-17 no assertion criteria provided research

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