ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) (rs187029309)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079704 SCV000111587 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079704 SCV000151197 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000079704 SCV000250350 benign not specified 2016-05-09 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 RCV001083521 SCV000287151 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250600 SCV000319460 benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079704 SCV000603736 benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514451 SCV000610452 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079704 SCV000613330 benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659672 SCV000781515 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719316 SCV000850182 benign History of neurodevelopmental disorder 2015-10-23 criteria provided, single submitter clinical testing

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