ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) (rs1271250198)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine RCV000709614 SCV000807694 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2017-10-20 no assertion criteria provided clinical testing In family YUHL48, individual YUHL48-11 had moderate bilateral sensorineural hearing loss at the age of 18 years, which progressed to profound hearing loss by the age of 41 years.

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