ClinVar Miner

Submissions for variant NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)

gnomAD frequency: 0.00001  dbSNP: rs763320093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV000680188 SCV000693870 pathogenic Sensorineural hearing loss disorder 2018-03-14 no assertion criteria provided research
Center for Statistical Genetics, Columbia University RCV000680188 SCV000700205 pathogenic Sensorineural hearing loss disorder no assertion criteria provided research
OMIM RCV001003347 SCV001161446 uncertain significance not provided 2020-02-12 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001034598 SCV001197978 likely pathogenic Autosomal-Recessive Hereditary Hearing Impairment no assertion criteria provided research

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