Submissions for variant NM_001110556.2(FLNA):c.5313+4C>T

gnomAD frequency: 0.00028  dbSNP: rs377330443

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197562	SCV000250348	benign	not specified	2014-09-04	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	RCV000475021	SCV000556018	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619476	SCV000739065	benign	Cardiovascular phenotype	2019-02-23	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;In silico models in agreement (benign)
Ambry Genetics	RCV000717257	SCV000848106	uncertain significance	History of neurodevelopmental disorder	2016-04-14	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: In silico models in agreement (benign) ,Insufficient or conflicting evidence
CeGaT Center for Human Genetics Tuebingen	RCV001573909	SCV004165094	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003955184	SCV004772082	likely benign	FLNA-related condition	2019-07-23	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573909	SCV001800446	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573909	SCV001974077	likely benign	not provided		no assertion criteria provided	clinical testing