ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.228_229dup (p.His77fs)

dbSNP: rs1553165199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655876 SCV000777805 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only

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