ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) (rs200278701)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117041 SCV000151173 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000259152 SCV000233040 likely benign not specified 2015-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000117041 SCV000513050 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000259152 SCV000613322 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV001088786 SCV000639756 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617891 SCV000739067 benign Cardiovascular phenotype 2016-01-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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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