ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4441+7C>T (rs372493678)

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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 RCV000151510 SCV000199600 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 4441+7C>T in Intron 33 of MYO7A: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.2% (7/3132) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724056 SCV000229592 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000151510 SCV000725086 likely benign not specified 2017-11-22 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 RCV000724056 SCV001040220 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073918 SCV001239483 uncertain significance Retinal dystrophy 2018-06-19 criteria provided, single submitter clinical testing

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