ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6264C>T (p.His2088=) (rs188278264)

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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 RCV000600993 SCV000711984 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing p.His2088His in exon 46 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 5/120452 of the total chromosomes across several populations by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs188278264).

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