Submissions for variant NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)

gnomAD frequency: 0.00018  dbSNP: rs201656372

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705111	SCV000250380	likely benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27900360)
Invitae	RCV000456996	SCV000556021	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619693	SCV000739062	benign	Cardiovascular phenotype	2016-07-08	criteria provided, single submitter	clinical testing	Insufficient evidence
Ambry Genetics	RCV000720144	SCV000851021	benign	History of neurodevelopmental disorder	2016-07-08	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient evidence
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705111	SCV004564206	likely benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895258	SCV004711187	benign	FLNA-related condition	2019-06-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).