ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)

gnomAD frequency: 0.00001  dbSNP: rs1648206560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056138 SCV000087218 pathologic Autosomal dominant nonsyndromic hearing loss 2A 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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