ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) (rs35986650)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117052 SCV000151186 benign not specified 2013-04-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117052 SCV000226597 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000117052 SCV000250329 benign not specified 2014-06-26 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.
Ambry Genetics RCV000245949 SCV000319462 likely benign Cardiovascular phenotype 2015-02-27 criteria provided, single submitter clinical testing
Invitae RCV000459492 SCV000556050 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717725 SCV000848583 likely benign History of neurodevelopmental disorder 2015-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285663 SCV001472133 benign none provided 2020-08-24 criteria provided, single submitter clinical testing

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