ClinVar Miner

Submissions for variant NC_000011.10:g.77211855A>G

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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 RCV000825202 SCV000966479 likely benign not specified 2018-11-28 criteria provided, single submitter clinical testing The p.Lys2091Arg variant in MYO7A is classified as likely benign because it has been identified in 0.3% (107/35366) of Latino chromosomes by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org). Computational predictio n tools and conservation analysis suggest that the MYO7A variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.

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