ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) (rs34439033)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117056 SCV000228215 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000117056 SCV000250340 benign not specified 2014-10-30 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 RCV000249405 SCV000320539 benign Cardiovascular phenotype 2015-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000473871 SCV000556052 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715662 SCV000846492 benign History of neurodevelopmental disorder 2015-12-02 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282701 SCV001158891 benign none provided 2020-05-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117056 SCV000151191 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117056 SCV001926419 benign not specified no assertion criteria provided clinical testing

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