Submissions for variant NM_002024.6(FMR1):c.1572C>T (p.Ser524=)

gnomAD frequency: 0.00117  dbSNP: rs143889976

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193183	SCV000247407	likely benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000193183	SCV000340686	benign	not specified	2016-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317683	SCV000850738	likely benign	Inborn genetic diseases	2016-06-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001276521	SCV001462901	likely benign	Fragile X syndrome	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573098	SCV001798462	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573098	SCV001974124	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927777	SCV004739198	likely benign	FMR1-related disorder	2024-01-16	no assertion criteria provided	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).