ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) (rs182074603)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719445 SCV000850312 likely benign History of neurodevelopmental disorder 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723943 SCV000202728 uncertain significance not provided 2014-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000153253 SCV000515702 likely benign not specified 2017-08-22 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 RCV000544900 SCV000639787 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-03-24 criteria provided, single submitter clinical testing

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