ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) (rs199853721)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000192632 SCV000232140 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192632 SCV000247386 uncertain significance not specified 2014-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000192632 SCV000250366 benign not specified 2014-11-05 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 RCV001082645 SCV000287135 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244567 SCV000319473 likely benign Cardiovascular phenotype 2014-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000192632 SCV000613321 benign not specified 2017-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720675 SCV000851554 likely benign History of neurodevelopmental disorder 2014-10-08 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762689 SCV000893025 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000192632 SCV001158013 benign not specified 2018-11-26 criteria provided, single submitter clinical testing

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