ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) (rs186644871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036216 SCV000059868 likely benign not specified 2016-05-10 criteria provided, single submitter clinical testing p.Lys2005Glu in exon 44 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.65% (9/1386) of Latino chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs186644871).
Invitae RCV000916924 SCV001062181 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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