ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3925-8G>A (rs367645097)

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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 RCV000155232 SCV000204918 likely benign not specified 2013-11-05 criteria provided, single submitter clinical testing 3925-8G>A in Intron 30 of MYO7A: This variant is not expected to have clinical significance because it was shown to have no effect on splicing in an ex-vivo fu nctional study (Le Guedard-Mereuze 2010) and it is not located in the invariant -1/-2 positions of the splice site consensus sequence. The variant has been iden tified in 0.02% (2/8402) of European American chromosomes by the NHLBI Exome seq uencing project (http://evs.gs.washington.edu/EVS/) and in an individual with Us her type I syndrome but the authors reported it as a neutral variant (Le Guedard -Mereuze 2010).
GeneDx RCV000828165 SCV000969847 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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