ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) (rs56102764)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617192 SCV000738383 likely benign Cardiovascular phenotype 2018-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Ambry Genetics RCV000719185 SCV000850051 likely benign History of neurodevelopmental disorder 2018-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Center for Human Genetics, Inc RCV000680536 SCV000807945 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000196068 SCV000297013 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000196068 SCV000331587 benign not specified 2016-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000196068 SCV000250347 likely benign not specified 2017-08-30 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.
Genetic Services Laboratory, University of Chicago RCV000196068 SCV000594796 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Invitae RCV000473909 SCV000556049 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-11-27 criteria provided, single submitter clinical testing

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