ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) (rs200660642)

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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 RCV000724601 SCV000225820 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192550 SCV000247389 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000192550 SCV000250326 benign not specified 2014-09-11 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 RCV001080648 SCV000556069 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000192550 SCV000603749 benign not specified 2019-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621943 SCV000738405 likely benign Cardiovascular phenotype 2015-09-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659658 SCV000781501 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720535 SCV000851413 likely benign History of neurodevelopmental disorder 2015-09-14 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.
Athena Diagnostics Inc RCV000724601 SCV001143937 benign not provided 2018-12-27 criteria provided, single submitter clinical testing

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