ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) (rs113510895)

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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 RCV000079709 SCV000111592 benign not specified 2012-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079709 SCV000151200 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
Claritas Genomics RCV000079709 SCV000222860 likely benign not specified 2013-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000079709 SCV000250353 benign not specified 2014-06-17 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 RCV001084164 SCV000261525 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079709 SCV000306626 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079709 SCV000603738 benign not specified 2018-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620602 SCV000738350 likely benign Cardiovascular phenotype 2015-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715996 SCV000846829 likely benign History of neurodevelopmental disorder 2015-04-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000205572 SCV001143940 benign not provided 2019-07-03 criteria provided, single submitter clinical testing

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