ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) (rs200787122)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000444097 SCV000151177 likely benign not specified 2016-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249921 SCV000319778 likely benign Cardiovascular phenotype 2015-06-04 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.
GeneDx RCV000444097 SCV000513060 benign not specified 2015-08-31 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.
Athena Diagnostics Inc RCV000444097 SCV000613328 benign not specified 2017-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000444097 SCV000708384 benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680535 SCV000807944 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000861237 SCV001001494 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284779 SCV001470800 likely benign none provided 2020-07-04 criteria provided, single submitter clinical testing

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