ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) (rs1558014576)

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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 RCV000722178 SCV000854593 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2017-12-07 no assertion criteria provided clinical testing The pedigree of YUHL35 showed autosomal dominant fashion of hearing loss. Affected patients (II-6 and III-7) had moderate bilateral sensorineural hearing loss.

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