ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1554+8G>A (rs111033227)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036054 SCV000059706 benign not specified 2015-04-20 criteria provided, single submitter clinical testing c.1554+8G>A in intron 13 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splic e consensus sequence and has been identified in 1.7% (5/298) of Finnish chromoso mes and in 0.4% (33/8958) of European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033227.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724629 SCV000225763 uncertain significance not provided 2015-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000036054 SCV000729221 likely benign not specified 2017-08-04 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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