ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)

gnomAD frequency: 0.00071  dbSNP: rs200048692
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200054 SCV000250369 benign not specified 2014-06-19 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.
Eurofins NTD LLC (GA) RCV000725233 SCV000335189 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
Invitae RCV001084931 SCV000556036 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618420 SCV000739047 likely benign Cardiovascular phenotype 2016-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659653 SCV000781496 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720237 SCV000851114 likely benign History of neurodevelopmental disorder 2016-07-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000725233 SCV000883902 benign not provided 2017-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725233 SCV002564137 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725233 SCV001926957 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725233 SCV001957248 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725233 SCV001973809 likely benign not provided no assertion criteria provided clinical testing

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