ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) (rs143873938)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174052 SCV000225286 benign not specified 2015-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000174052 SCV000250371 benign not specified 2014-10-16 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.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490438 SCV000267322 likely benign Periventricular nodular heterotopia 1 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000174052 SCV000306618 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001079269 SCV000556058 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755539 SCV000603735 benign not provided 2018-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617454 SCV000739058 benign Cardiovascular phenotype 2016-07-14 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,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
SIB Swiss Institute of Bioinformatics RCV000490438 SCV000803487 benign Periventricular nodular heterotopia 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Periventricular nodular heterotopia 1, in X-linked Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Ambry Genetics RCV000716373 SCV000847213 benign History of neurodevelopmental disorder 2016-07-14 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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