ClinVar Miner

Submissions for variant NM_014491.4(FOXP2):c.1434A>T (p.Arg478=)

dbSNP: rs201343293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594053 SCV000702352 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594053 SCV001061682 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395518 SCV002701372 likely benign Inborn genetic diseases 2019-08-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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