ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)

dbSNP: rs80358271
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006623 SCV000026806 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2019-11-22 no assertion criteria provided literature only
GeneReviews RCV000006623 SCV000041107 not provided Autosomal dominant nonsyndromic hearing loss 2A no assertion provided literature only

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