ClinVar Miner

Submissions for variant NC_000011.10:g.77203154G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825404 SCV000966701 uncertain significance not specified 2018-11-28 criteria provided, single submitter clinical testing The p.Ala1755Thr variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 0.069% (16/228 60) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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