ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) (rs111033388)

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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 RCV000270443 SCV000204117 benign not specified 2016-05-28 criteria provided, single submitter clinical testing c.6614_6634dup (p.Met2205_Ser221dup) in exon49 of MYO7A: This variant is not exp ected to have clinical significance because it has been identified in 2% (73/340 2) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs111033388).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000270443 SCV000336283 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000270443 SCV000714127 likely benign not specified 2018-02-02 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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