ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) (rs375489617)

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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 RCV000151500 SCV000199581 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala875Ala in Exon 22 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/6796 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS).

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