ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)

dbSNP: rs1567411469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714695 SCV000845417 pathogenic Autosomal recessive nonsyndromic hearing loss 86 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714696 SCV000845418 pathogenic Autosomal dominant nonsyndromic hearing loss 65 2018-08-07 criteria provided, single submitter clinical testing

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