ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) (rs17091204)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079690 SCV000111573 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000079690 SCV000168569 benign not specified 2014-03-21 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.
Claritas Genomics RCV000079690 SCV000222833 likely benign not specified 2013-07-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224049 SCV000281340 benign not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV000471541 SCV000556066 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282670 SCV000603747 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621157 SCV000738344 benign Cardiovascular phenotype 2015-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659660 SCV000781503 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715892 SCV000846724 benign History of neurodevelopmental disorder 2015-07-20 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000079690 SCV000151188 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224049 SCV001798971 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000079690 SCV001808604 benign not specified no assertion criteria provided clinical testing

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