Submissions for variant NM_001110556.2(FLNA):c.4598+8G>C

gnomAD frequency: 0.01252  dbSNP: rs112379782

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117057	SCV000151192	benign	not specified	2013-06-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117057	SCV000228436	benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000117057	SCV000250344	benign	not specified	2014-06-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461339	SCV000556056	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2025-02-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811966	SCV001472132	benign	not provided	2024-10-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117057	SCV004029225	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing