ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.565_566del (p.Val189fs)

dbSNP: rs1060499651
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449499 SCV000537695 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-06-01 criteria provided, single submitter clinical testing This homozygous variant in the MYO7A gene was found in a young girl. Both the mother and the father are heterozygous for this variant.

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