ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.237G>C (p.Ala79=) (rs200626788)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079688 SCV000111571 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079688 SCV000151185 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000259078 SCV000613323 benign not specified 2019-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620917 SCV000739054 likely benign Cardiovascular phenotype 2017-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659650 SCV000781493 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720787 SCV000851669 likely benign History of neurodevelopmental disorder 2017-03-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001089423 SCV001003192 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-10-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000259078 SCV001157351 likely benign not specified 2018-10-19 criteria provided, single submitter clinical testing

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