Submissions for variant NM_000141.5(FGFR2):c.1986+7C>T

gnomAD frequency: 0.00032  dbSNP: rs199697707

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425074	SCV000524095	likely benign	not specified	2016-02-01	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.
Genetic Services Laboratory, University of Chicago	RCV000425074	SCV002070823	benign	not specified	2017-08-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002062638	SCV002404010	benign	FGFR2-related craniosynostosis	2021-08-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506042	SCV002805960	likely benign	Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer	2021-09-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533021	SCV004744028	likely benign	FGFR2-related disorder	2019-09-26	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).