ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) (rs397516327)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036224 SCV000059876 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing p.Ser2055Ser in exon 45 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been identified in 10/17320 European chromosomes by the Exome Aggregation Consortium (ExAC,
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726540 SCV000345342 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000726540 SCV000984374 likely benign not provided 2018-05-04 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.
Invitae RCV000726540 SCV001082211 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272821 SCV001455187 likely benign Usher syndrome, type 1B 2020-04-17 no assertion criteria provided clinical testing

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