ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.687C>T (p.Gly229=) (rs371142158)

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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 RCV000036245 SCV000059897 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing p.Gly229Gly in exon 7 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction. This variant has been identified in 0.05% (64/126624) Euro pean chromosomes and 0.07% (25/34418) Latino chromosomes and by the Genome Aggr egation Database; however, data did not pass quality standards (gnomAD, http://g nomad.broadinstitute.org; rs371142158).

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