ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) (rs377388669)

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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 RCV000155237 SCV000204923 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.Pro1751Pro in Exon 38 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/7182 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs377388669).
GeneDx RCV000155237 SCV000726553 likely benign not specified 2018-01-18 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733418 SCV000861486 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing

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