ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) (rs36051194)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079685 SCV000111568 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079685 SCV000151180 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000079685 SCV000168579 benign not specified 2014-06-09 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.
Claritas Genomics RCV000079685 SCV000222825 benign not specified 2012-08-20 criteria provided, single submitter clinical testing
Invitae RCV000229050 SCV000287137 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079685 SCV000306617 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282658 SCV000603731 benign none provided 2020-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621313 SCV000738338 benign Cardiovascular phenotype 2015-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716570 SCV000847411 benign History of neurodevelopmental disorder 2015-04-16 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.
Athena Diagnostics Inc RCV000755272 SCV001143936 benign not provided 2018-10-24 criteria provided, single submitter clinical testing

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