ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) (rs376301325)

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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 RCV000155240 SCV000204926 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser1791Ser in Exon 39 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/6820 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).

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